SNP Links for Protein (Select 65506769) - SNP

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Links from Protein

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Select item 14895593041.

rs1489559304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:84707870 (GRCh38)
9:87322785 (GRCh37)
Canonical SPDI:: NC_000009.12:84707869:G:C
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.84707870G>C, NC_000009.11:g.87322785G>C, NG_012201.2:g.44320G>C, NM_006180.6:c.386G>C, NM_006180.5:c.386G>C, NM_006180.4:c.386G>C, NM_006180.3:c.386G>C, NM_001018066.3:c.386G>C, NM_001018066.2:c.386G>C, NM_001018064.3:c.386G>C, NM_001018064.2:c.386G>C, NM_001018064.1:c.386G>C, NM_001007097.3:c.386G>C, NM_001007097.2:c.386G>C, NM_001007097.1:c.386G>C, NM_001018065.2:c.386G>C, NM_001291937.2:c.386G>C, NM_001291937.1:c.386G>C, NM_001369532.1:c.386G>C, NM_001369533.1:c.386G>C, NM_001369534.1:c.386G>C, NM_001369537.1:c.386G>C, NM_001369538.1:c.386G>C, NM_001369536.1:c.-83G>C, NM_001369535.1:c.-83G>C, NM_001369544.1:c.386G>C, NM_001369543.1:c.386G>C, NM_001369541.1:c.386G>C, NM_001369542.1:c.386G>C, NM_001369545.1:c.386G>C, NM_001369539.1:c.386G>C, NM_001369548.1:c.386G>C, NM_001369547.1:c.386G>C, NM_001369540.1:c.386G>C, NM_001369546.1:c.386G>C, NM_001369549.1:c.386G>C, NM_001369552.1:c.-83G>C, NM_001369551.1:c.-83G>C, NM_001369550.1:c.-83G>C, XM_005252001.4:c.386G>C, XM_005252001.3:c.386G>C, XM_005252001.2:c.386G>C, XM_005252001.1:c.386G>C, XM_005252003.4:c.386G>C, XM_005252003.3:c.386G>C, XM_005252003.2:c.386G>C, XM_005252003.1:c.386G>C, XM_011518718.4:c.386G>C, XM_011518718.3:c.386G>C, XM_011518718.2:c.386G>C, XM_011518718.1:c.386G>C, XM_017014751.3:c.386G>C, XM_017014751.2:c.386G>C, XM_017014751.1:c.386G>C, XM_017014753.3:c.386G>C, XM_017014753.2:c.386G>C, XM_017014753.1:c.386G>C, XM_005252004.3:c.386G>C, XM_005252004.2:c.386G>C, XM_005252004.1:c.386G>C, XM_017014760.3:c.386G>C, XM_017014760.2:c.386G>C, XM_017014760.1:c.386G>C, XM_017014752.2:c.386G>C, XM_017014752.1:c.386G>C, XM_047423432.1:c.386G>C, XM_047423433.1:c.386G>C, XM_017014755.1:c.386G>C, NM_001381928.1:c.386G>C, NP_006171.2:p.Ser129Thr, NP_001018076.1:p.Ser129Thr, NP_001018074.1:p.Ser129Thr, NP_001007098.1:p.Ser129Thr, NP_001018075.1:p.Ser129Thr, NP_001278866.1:p.Ser129Thr, NP_001356461.1:p.Ser129Thr, NP_001356462.1:p.Ser129Thr, NP_001356463.1:p.Ser129Thr, NP_001356466.1:p.Ser129Thr, NP_001356467.1:p.Ser129Thr, NP_001356473.1:p.Ser129Thr, NP_001356472.1:p.Ser129Thr, NP_001356470.1:p.Ser129Thr, NP_001356471.1:p.Ser129Thr, NP_001356474.1:p.Ser129Thr, NP_001356468.1:p.Ser129Thr, NP_001356477.1:p.Ser129Thr, NP_001356476.1:p.Ser129Thr, NP_001356469.1:p.Ser129Thr, NP_001356475.1:p.Ser129Thr, NP_001356478.1:p.Ser129Thr, XP_005252058.1:p.Ser129Thr, XP_005252060.1:p.Ser129Thr, XP_011517020.1:p.Ser129Thr, XP_016870240.1:p.Ser129Thr, XP_016870242.1:p.Ser129Thr, XP_005252061.1:p.Ser129Thr, XP_016870249.1:p.Ser129Thr, XP_016870241.1:p.Ser129Thr, XP_047279388.1:p.Ser129Thr, XP_047279389.1:p.Ser129Thr, XP_016870244.1:p.Ser129Thr

Select item 14894874032.

rs1489487403 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:84727807 (GRCh38)
9:87342722 (GRCh37)
Canonical SPDI:: NC_000009.12:84727806:T:A
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.84727807T>A, NC_000009.11:g.87342722T>A, NG_012201.2:g.64257T>A, NM_006180.6:c.1007T>A, NM_006180.5:c.1007T>A, NM_006180.4:c.1007T>A, NM_006180.3:c.1007T>A, NM_001018066.3:c.1007T>A, NM_001018066.2:c.1007T>A, NM_001018064.3:c.1007T>A, NM_001018064.2:c.1007T>A, NM_001018064.1:c.1007T>A, NM_001007097.3:c.1007T>A, NM_001007097.2:c.1007T>A, NM_001007097.1:c.1007T>A, NM_001018065.2:c.1007T>A, NM_001291937.2:c.968T>A, NM_001291937.1:c.968T>A, NM_001369532.1:c.1007T>A, NM_001369533.1:c.1007T>A, NM_001369534.1:c.1007T>A, NM_001369537.1:c.1007T>A, NM_001369538.1:c.1007T>A, NM_001369536.1:c.539T>A, NM_001369535.1:c.539T>A, NM_001369544.1:c.1007T>A, NM_001369543.1:c.1007T>A, NM_001369541.1:c.1007T>A, NM_001369542.1:c.1007T>A, NM_001369545.1:c.1007T>A, NM_001369539.1:c.1007T>A, NM_001369548.1:c.1007T>A, NM_001369547.1:c.1007T>A, NM_001369540.1:c.1007T>A, NM_001369546.1:c.968T>A, NM_001369549.1:c.1007T>A, NM_001369552.1:c.539T>A, NM_001369551.1:c.539T>A, NM_001369550.1:c.539T>A, XM_005252001.4:c.1007T>A, XM_005252001.3:c.1007T>A, XM_005252001.2:c.1007T>A, XM_005252001.1:c.1007T>A, XM_005252003.4:c.1007T>A, XM_005252003.3:c.1007T>A, XM_005252003.2:c.1007T>A, XM_005252003.1:c.1007T>A, XM_011518718.4:c.1007T>A, XM_011518718.3:c.1007T>A, XM_011518718.2:c.1007T>A, XM_011518718.1:c.1007T>A, XM_017014751.3:c.1007T>A, XM_017014751.2:c.1007T>A, XM_017014751.1:c.1007T>A, XM_017014753.3:c.1007T>A, XM_017014753.2:c.1007T>A, XM_017014753.1:c.1007T>A, XM_005252004.3:c.1007T>A, XM_005252004.2:c.1007T>A, XM_005252004.1:c.1007T>A, XM_017014760.3:c.1007T>A, XM_017014760.2:c.1007T>A, XM_017014760.1:c.1007T>A, XM_017014752.2:c.1007T>A, XM_017014752.1:c.1007T>A, XM_047423432.1:c.1007T>A, XM_047423433.1:c.1007T>A, XM_017014755.1:c.1007T>A, NM_001381928.1:c.1007T>A, NP_006171.2:p.Val336Asp, NP_001018076.1:p.Val336Asp, NP_001018074.1:p.Val336Asp, NP_001007098.1:p.Val336Asp, NP_001018075.1:p.Val336Asp, NP_001278866.1:p.Val323Asp, NP_001356461.1:p.Val336Asp, NP_001356462.1:p.Val336Asp, NP_001356463.1:p.Val336Asp, NP_001356466.1:p.Val336Asp, NP_001356467.1:p.Val336Asp, NP_001356465.1:p.Val180Asp, NP_001356464.1:p.Val180Asp, NP_001356473.1:p.Val336Asp, NP_001356472.1:p.Val336Asp, NP_001356470.1:p.Val336Asp, NP_001356471.1:p.Val336Asp, NP_001356474.1:p.Val336Asp, NP_001356468.1:p.Val336Asp, NP_001356477.1:p.Val336Asp, NP_001356476.1:p.Val336Asp, NP_001356469.1:p.Val336Asp, NP_001356475.1:p.Val323Asp, NP_001356478.1:p.Val336Asp, NP_001356481.1:p.Val180Asp, NP_001356480.1:p.Val180Asp, NP_001356479.1:p.Val180Asp, XP_005252058.1:p.Val336Asp, XP_005252060.1:p.Val336Asp, XP_011517020.1:p.Val336Asp, XP_016870240.1:p.Val336Asp, XP_016870242.1:p.Val336Asp, XP_005252061.1:p.Val336Asp, XP_016870249.1:p.Val336Asp, XP_016870241.1:p.Val336Asp, XP_047279388.1:p.Val336Asp, XP_047279389.1:p.Val336Asp, XP_016870244.1:p.Val336Asp

Select item 14870085533.

rs1487008553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:84702194 (GRCh38)
9:87317109 (GRCh37)
Canonical SPDI:: NC_000009.12:84702193:A:G
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.84702194A>G, NC_000009.11:g.87317109A>G, NG_012201.2:g.38644A>G, NM_006180.6:c.248A>G, NM_006180.5:c.248A>G, NM_006180.4:c.248A>G, NM_006180.3:c.248A>G, NM_001018066.3:c.248A>G, NM_001018066.2:c.248A>G, NM_001018064.3:c.248A>G, NM_001018064.2:c.248A>G, NM_001018064.1:c.248A>G, NM_001007097.3:c.248A>G, NM_001007097.2:c.248A>G, NM_001007097.1:c.248A>G, NM_001018065.2:c.248A>G, NM_001291937.2:c.248A>G, NM_001291937.1:c.248A>G, NM_001369532.1:c.248A>G, NM_001369533.1:c.248A>G, NM_001369534.1:c.248A>G, NM_001369537.1:c.248A>G, NM_001369538.1:c.248A>G, NM_001369536.1:c.-221A>G, NM_001369535.1:c.-221A>G, NM_001369544.1:c.248A>G, NM_001369543.1:c.248A>G, NM_001369541.1:c.248A>G, NM_001369542.1:c.248A>G, NM_001369545.1:c.248A>G, NM_001369539.1:c.248A>G, NM_001369548.1:c.248A>G, NM_001369547.1:c.248A>G, NM_001369540.1:c.248A>G, NM_001369546.1:c.248A>G, NM_001369549.1:c.248A>G, NM_001369551.1:c.-221A>G, NM_001369550.1:c.-221A>G, XM_005252001.4:c.248A>G, XM_005252001.3:c.248A>G, XM_005252001.2:c.248A>G, XM_005252001.1:c.248A>G, XM_005252003.4:c.248A>G, XM_005252003.3:c.248A>G, XM_005252003.2:c.248A>G, XM_005252003.1:c.248A>G, XM_011518718.4:c.248A>G, XM_011518718.3:c.248A>G, XM_011518718.2:c.248A>G, XM_011518718.1:c.248A>G, XM_017014751.3:c.248A>G, XM_017014751.2:c.248A>G, XM_017014751.1:c.248A>G, XM_017014753.3:c.248A>G, XM_017014753.2:c.248A>G, XM_017014753.1:c.248A>G, XM_005252004.3:c.248A>G, XM_005252004.2:c.248A>G, XM_005252004.1:c.248A>G, XM_017014760.3:c.248A>G, XM_017014760.2:c.248A>G, XM_017014760.1:c.248A>G, XM_017014752.2:c.248A>G, XM_017014752.1:c.248A>G, XM_047423432.1:c.248A>G, XM_047423433.1:c.248A>G, XM_017014755.1:c.248A>G, NM_001381928.1:c.248A>G, NP_006171.2:p.Asn83Ser, NP_001018076.1:p.Asn83Ser, NP_001018074.1:p.Asn83Ser, NP_001007098.1:p.Asn83Ser, NP_001018075.1:p.Asn83Ser, NP_001278866.1:p.Asn83Ser, NP_001356461.1:p.Asn83Ser, NP_001356462.1:p.Asn83Ser, NP_001356463.1:p.Asn83Ser, NP_001356466.1:p.Asn83Ser, NP_001356467.1:p.Asn83Ser, NP_001356473.1:p.Asn83Ser, NP_001356472.1:p.Asn83Ser, NP_001356470.1:p.Asn83Ser, NP_001356471.1:p.Asn83Ser, NP_001356474.1:p.Asn83Ser, NP_001356468.1:p.Asn83Ser, NP_001356477.1:p.Asn83Ser, NP_001356476.1:p.Asn83Ser, NP_001356469.1:p.Asn83Ser, NP_001356475.1:p.Asn83Ser, NP_001356478.1:p.Asn83Ser, XP_005252058.1:p.Asn83Ser, XP_005252060.1:p.Asn83Ser, XP_011517020.1:p.Asn83Ser, XP_016870240.1:p.Asn83Ser, XP_016870242.1:p.Asn83Ser, XP_005252061.1:p.Asn83Ser, XP_016870249.1:p.Asn83Ser, XP_016870241.1:p.Asn83Ser, XP_047279388.1:p.Asn83Ser, XP_047279389.1:p.Asn83Ser, XP_016870244.1:p.Asn83Ser

Select item 14830496204.

rs1483049620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:84751995 (GRCh38)
9:87366910 (GRCh37)
Canonical SPDI:: NC_000009.12:84751994:G:C
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.84751995G>C, NC_000009.11:g.87366910G>C, NG_012201.2:g.88445G>C, NM_006180.6:c.1306G>C, NM_006180.5:c.1306G>C, NM_006180.4:c.1306G>C, NM_006180.3:c.1306G>C, NM_001018066.3:c.1306G>C, NM_001018066.2:c.1306G>C, NM_001018064.3:c.1306G>C, NM_001018064.2:c.1306G>C, NM_001018064.1:c.1306G>C, NM_001007097.3:c.1306G>C, NM_001007097.2:c.1306G>C, NM_001007097.1:c.1306G>C, NM_001018065.2:c.1306G>C, NM_001291937.2:c.1267G>C, NM_001291937.1:c.1267G>C, NM_001369532.1:c.1306G>C, NM_001369533.1:c.1306G>C, NM_001369534.1:c.1270G>C, NM_001369537.1:c.1306G>C, NM_001369538.1:c.1306G>C, NM_001369536.1:c.838G>C, NM_001369535.1:c.838G>C, NM_001369544.1:c.1306G>C, NM_001369543.1:c.1306G>C, NM_001369541.1:c.1306G>C, NM_001369542.1:c.1306G>C, NM_001369545.1:c.1306G>C, NM_001369539.1:c.1306G>C, NM_001369548.1:c.1306G>C, NM_001369547.1:c.1306G>C, NM_001369540.1:c.1306G>C, NM_001369546.1:c.1267G>C, NM_001369549.1:c.1306G>C, NM_001369552.1:c.838G>C, NM_001369551.1:c.838G>C, NM_001369550.1:c.838G>C, XM_005252001.4:c.1306G>C, XM_005252001.3:c.1306G>C, XM_005252001.2:c.1306G>C, XM_005252001.1:c.1306G>C, XM_005252003.4:c.1306G>C, XM_005252003.3:c.1306G>C, XM_005252003.2:c.1306G>C, XM_005252003.1:c.1306G>C, XM_011518718.4:c.1306G>C, XM_011518718.3:c.1306G>C, XM_011518718.2:c.1306G>C, XM_011518718.1:c.1306G>C, XM_017014751.3:c.1306G>C, XM_017014751.2:c.1306G>C, XM_017014751.1:c.1306G>C, XM_017014753.3:c.1306G>C, XM_017014753.2:c.1306G>C, XM_017014753.1:c.1306G>C, XM_005252004.3:c.1306G>C, XM_005252004.2:c.1306G>C, XM_005252004.1:c.1306G>C, XM_017014760.3:c.1306G>C, XM_017014760.2:c.1306G>C, XM_017014760.1:c.1306G>C, XM_017014752.2:c.1306G>C, XM_017014752.1:c.1306G>C, XM_047423432.1:c.1306G>C, XM_047423433.1:c.1306G>C, XM_017014755.1:c.1306G>C, NM_001381928.1:c.1306G>C, NP_006171.2:p.Val436Leu, NP_001018076.1:p.Val436Leu, NP_001018074.1:p.Val436Leu, NP_001007098.1:p.Val436Leu, NP_001018075.1:p.Val436Leu, NP_001278866.1:p.Val423Leu, NP_001356461.1:p.Val436Leu, NP_001356462.1:p.Val436Leu, NP_001356463.1:p.Val424Leu, NP_001356466.1:p.Val436Leu, NP_001356467.1:p.Val436Leu, NP_001356465.1:p.Val280Leu, NP_001356464.1:p.Val280Leu, NP_001356473.1:p.Val436Leu, NP_001356472.1:p.Val436Leu, NP_001356470.1:p.Val436Leu, NP_001356471.1:p.Val436Leu, NP_001356474.1:p.Val436Leu, NP_001356468.1:p.Val436Leu, NP_001356477.1:p.Val436Leu, NP_001356476.1:p.Val436Leu, NP_001356469.1:p.Val436Leu, NP_001356475.1:p.Val423Leu, NP_001356478.1:p.Val436Leu, NP_001356481.1:p.Val280Leu, NP_001356480.1:p.Val280Leu, NP_001356479.1:p.Val280Leu, XP_005252058.1:p.Val436Leu, XP_005252060.1:p.Val436Leu, XP_011517020.1:p.Val436Leu, XP_016870240.1:p.Val436Leu, XP_016870242.1:p.Val436Leu, XP_005252061.1:p.Val436Leu, XP_016870249.1:p.Val436Leu, XP_016870241.1:p.Val436Leu, XP_047279388.1:p.Val436Leu, XP_047279389.1:p.Val436Leu, XP_016870244.1:p.Val436Leu

Select item 14824446475.

rs1482444647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:84752054 (GRCh38)
9:87366969 (GRCh37)
Canonical SPDI:: NC_000009.12:84752053:G:C
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.84752054G>C, NC_000009.11:g.87366969G>C, NG_012201.2:g.88504G>C, NM_006180.6:c.1365G>C, NM_006180.5:c.1365G>C, NM_006180.4:c.1365G>C, NM_006180.3:c.1365G>C, NM_001018066.3:c.1365G>C, NM_001018066.2:c.1365G>C, NM_001018064.3:c.1365G>C, NM_001018064.2:c.1365G>C, NM_001018064.1:c.1365G>C, NM_001007097.3:c.1365G>C, NM_001007097.2:c.1365G>C, NM_001007097.1:c.1365G>C, NM_001018065.2:c.1365G>C, NM_001291937.2:c.1326G>C, NM_001291937.1:c.1326G>C, NM_001369532.1:c.1365G>C, NM_001369533.1:c.1365G>C, NM_001369534.1:c.1329G>C, NM_001369537.1:c.1365G>C, NM_001369538.1:c.1365G>C, NM_001369536.1:c.897G>C, NM_001369535.1:c.897G>C, NM_001369544.1:c.1365G>C, NM_001369543.1:c.1365G>C, NM_001369541.1:c.1365G>C, NM_001369542.1:c.1365G>C, NM_001369545.1:c.1365G>C, NM_001369539.1:c.1365G>C, NM_001369548.1:c.1365G>C, NM_001369547.1:c.1365G>C, NM_001369540.1:c.1365G>C, NM_001369546.1:c.1326G>C, NM_001369549.1:c.1365G>C, NM_001369552.1:c.897G>C, NM_001369551.1:c.897G>C, NM_001369550.1:c.897G>C, XM_005252001.4:c.1365G>C, XM_005252001.3:c.1365G>C, XM_005252001.2:c.1365G>C, XM_005252001.1:c.1365G>C, XM_005252003.4:c.1365G>C, XM_005252003.3:c.1365G>C, XM_005252003.2:c.1365G>C, XM_005252003.1:c.1365G>C, XM_011518718.4:c.1365G>C, XM_011518718.3:c.1365G>C, XM_011518718.2:c.1365G>C, XM_011518718.1:c.1365G>C, XM_017014751.3:c.1365G>C, XM_017014751.2:c.1365G>C, XM_017014751.1:c.1365G>C, XM_017014753.3:c.1365G>C, XM_017014753.2:c.1365G>C, XM_017014753.1:c.1365G>C, XM_005252004.3:c.1365G>C, XM_005252004.2:c.1365G>C, XM_005252004.1:c.1365G>C, XM_017014760.3:c.1365G>C, XM_017014760.2:c.1365G>C, XM_017014760.1:c.1365G>C, XM_017014752.2:c.1365G>C, XM_017014752.1:c.1365G>C, XM_047423432.1:c.1365G>C, XM_047423433.1:c.1365G>C, XM_017014755.1:c.1365G>C, NM_001381928.1:c.1365G>C, NP_006171.2:p.Lys455Asn, NP_001018076.1:p.Lys455Asn, NP_001018074.1:p.Lys455Asn, NP_001007098.1:p.Lys455Asn, NP_001018075.1:p.Lys455Asn, NP_001278866.1:p.Lys442Asn, NP_001356461.1:p.Lys455Asn, NP_001356462.1:p.Lys455Asn, NP_001356463.1:p.Lys443Asn, NP_001356466.1:p.Lys455Asn, NP_001356467.1:p.Lys455Asn, NP_001356465.1:p.Lys299Asn, NP_001356464.1:p.Lys299Asn, NP_001356473.1:p.Lys455Asn, NP_001356472.1:p.Lys455Asn, NP_001356470.1:p.Lys455Asn, NP_001356471.1:p.Lys455Asn, NP_001356474.1:p.Lys455Asn, NP_001356468.1:p.Lys455Asn, NP_001356477.1:p.Lys455Asn, NP_001356476.1:p.Lys455Asn, NP_001356469.1:p.Lys455Asn, NP_001356475.1:p.Lys442Asn, NP_001356478.1:p.Lys455Asn, NP_001356481.1:p.Lys299Asn, NP_001356480.1:p.Lys299Asn, NP_001356479.1:p.Lys299Asn, XP_005252058.1:p.Lys455Asn, XP_005252060.1:p.Lys455Asn, XP_011517020.1:p.Lys455Asn, XP_016870240.1:p.Lys455Asn, XP_016870242.1:p.Lys455Asn, XP_005252061.1:p.Lys455Asn, XP_016870249.1:p.Lys455Asn, XP_016870241.1:p.Lys455Asn, XP_047279388.1:p.Lys455Asn, XP_047279389.1:p.Lys455Asn, XP_016870244.1:p.Lys455Asn

Select item 14816272046.

rs1481627204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:84702180 (GRCh38)
9:87317095 (GRCh37)
Canonical SPDI:: NC_000009.12:84702179:G:A
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.84702180G>A, NC_000009.11:g.87317095G>A, NG_012201.2:g.38630G>A, NM_006180.6:c.234G>A, NM_006180.5:c.234G>A, NM_006180.4:c.234G>A, NM_006180.3:c.234G>A, NM_001018066.3:c.234G>A, NM_001018066.2:c.234G>A, NM_001018064.3:c.234G>A, NM_001018064.2:c.234G>A, NM_001018064.1:c.234G>A, NM_001007097.3:c.234G>A, NM_001007097.2:c.234G>A, NM_001007097.1:c.234G>A, NM_001018065.2:c.234G>A, NM_001291937.2:c.234G>A, NM_001291937.1:c.234G>A, NM_001369532.1:c.234G>A, NM_001369533.1:c.234G>A, NM_001369534.1:c.234G>A, NM_001369537.1:c.234G>A, NM_001369538.1:c.234G>A, NM_001369536.1:c.-235G>A, NM_001369535.1:c.-235G>A, NM_001369544.1:c.234G>A, NM_001369543.1:c.234G>A, NM_001369541.1:c.234G>A, NM_001369542.1:c.234G>A, NM_001369545.1:c.234G>A, NM_001369539.1:c.234G>A, NM_001369548.1:c.234G>A, NM_001369547.1:c.234G>A, NM_001369540.1:c.234G>A, NM_001369546.1:c.234G>A, NM_001369549.1:c.234G>A, NM_001369551.1:c.-235G>A, NM_001369550.1:c.-235G>A, XM_005252001.4:c.234G>A, XM_005252001.3:c.234G>A, XM_005252001.2:c.234G>A, XM_005252001.1:c.234G>A, XM_005252003.4:c.234G>A, XM_005252003.3:c.234G>A, XM_005252003.2:c.234G>A, XM_005252003.1:c.234G>A, XM_011518718.4:c.234G>A, XM_011518718.3:c.234G>A, XM_011518718.2:c.234G>A, XM_011518718.1:c.234G>A, XM_017014751.3:c.234G>A, XM_017014751.2:c.234G>A, XM_017014751.1:c.234G>A, XM_017014753.3:c.234G>A, XM_017014753.2:c.234G>A, XM_017014753.1:c.234G>A, XM_005252004.3:c.234G>A, XM_005252004.2:c.234G>A, XM_005252004.1:c.234G>A, XM_017014760.3:c.234G>A, XM_017014760.2:c.234G>A, XM_017014760.1:c.234G>A, XM_017014752.2:c.234G>A, XM_017014752.1:c.234G>A, XM_047423432.1:c.234G>A, XM_047423433.1:c.234G>A, XM_017014755.1:c.234G>A, NM_001381928.1:c.234G>A

Select item 14774486367.

rs1477448636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:84723657 (GRCh38)
9:87338572 (GRCh37)
Canonical SPDI:: NC_000009.12:84723656:A:G
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.84723657A>G, NC_000009.11:g.87338572A>G, NG_012201.2:g.60107A>G, NM_006180.6:c.668A>G, NM_006180.5:c.668A>G, NM_006180.4:c.668A>G, NM_006180.3:c.668A>G, NM_001018066.3:c.668A>G, NM_001018066.2:c.668A>G, NM_001018064.3:c.668A>G, NM_001018064.2:c.668A>G, NM_001018064.1:c.668A>G, NM_001007097.3:c.668A>G, NM_001007097.2:c.668A>G, NM_001007097.1:c.668A>G, NM_001018065.2:c.668A>G, NM_001291937.2:c.668A>G, NM_001291937.1:c.668A>G, NM_001369532.1:c.668A>G, NM_001369533.1:c.668A>G, NM_001369534.1:c.668A>G, NM_001369537.1:c.668A>G, NM_001369538.1:c.668A>G, NM_001369536.1:c.200A>G, NM_001369535.1:c.200A>G, NM_001369544.1:c.668A>G, NM_001369543.1:c.668A>G, NM_001369541.1:c.668A>G, NM_001369542.1:c.668A>G, NM_001369545.1:c.668A>G, NM_001369539.1:c.668A>G, NM_001369548.1:c.668A>G, NM_001369547.1:c.668A>G, NM_001369540.1:c.668A>G, NM_001369546.1:c.668A>G, NM_001369549.1:c.668A>G, NM_001369552.1:c.200A>G, NM_001369551.1:c.200A>G, NM_001369550.1:c.200A>G, XM_005252001.4:c.668A>G, XM_005252001.3:c.668A>G, XM_005252001.2:c.668A>G, XM_005252001.1:c.668A>G, XM_005252003.4:c.668A>G, XM_005252003.3:c.668A>G, XM_005252003.2:c.668A>G, XM_005252003.1:c.668A>G, XM_011518718.4:c.668A>G, XM_011518718.3:c.668A>G, XM_011518718.2:c.668A>G, XM_011518718.1:c.668A>G, XM_017014751.3:c.668A>G, XM_017014751.2:c.668A>G, XM_017014751.1:c.668A>G, XM_017014753.3:c.668A>G, XM_017014753.2:c.668A>G, XM_017014753.1:c.668A>G, XM_005252004.3:c.668A>G, XM_005252004.2:c.668A>G, XM_005252004.1:c.668A>G, XM_017014760.3:c.668A>G, XM_017014760.2:c.668A>G, XM_017014760.1:c.668A>G, XM_017014752.2:c.668A>G, XM_017014752.1:c.668A>G, XM_047423432.1:c.668A>G, XM_047423433.1:c.668A>G, XM_017014755.1:c.668A>G, NM_001381928.1:c.668A>G, NP_006171.2:p.Asp223Gly, NP_001018076.1:p.Asp223Gly, NP_001018074.1:p.Asp223Gly, NP_001007098.1:p.Asp223Gly, NP_001018075.1:p.Asp223Gly, NP_001278866.1:p.Asp223Gly, NP_001356461.1:p.Asp223Gly, NP_001356462.1:p.Asp223Gly, NP_001356463.1:p.Asp223Gly, NP_001356466.1:p.Asp223Gly, NP_001356467.1:p.Asp223Gly, NP_001356465.1:p.Asp67Gly, NP_001356464.1:p.Asp67Gly, NP_001356473.1:p.Asp223Gly, NP_001356472.1:p.Asp223Gly, NP_001356470.1:p.Asp223Gly, NP_001356471.1:p.Asp223Gly, NP_001356474.1:p.Asp223Gly, NP_001356468.1:p.Asp223Gly, NP_001356477.1:p.Asp223Gly, NP_001356476.1:p.Asp223Gly, NP_001356469.1:p.Asp223Gly, NP_001356475.1:p.Asp223Gly, NP_001356478.1:p.Asp223Gly, NP_001356481.1:p.Asp67Gly, NP_001356480.1:p.Asp67Gly, NP_001356479.1:p.Asp67Gly, XP_005252058.1:p.Asp223Gly, XP_005252060.1:p.Asp223Gly, XP_011517020.1:p.Asp223Gly, XP_016870240.1:p.Asp223Gly, XP_016870242.1:p.Asp223Gly, XP_005252061.1:p.Asp223Gly, XP_016870249.1:p.Asp223Gly, XP_016870241.1:p.Asp223Gly, XP_047279388.1:p.Asp223Gly, XP_047279389.1:p.Asp223Gly, XP_016870244.1:p.Asp223Gly

Select item 14767007068.

rs1476700706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:84723663 (GRCh38)
9:87338578 (GRCh37)
Canonical SPDI:: NC_000009.12:84723662:T:C,NC_000009.12:84723662:T:G
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.0016/3 (Korea1K)
HGVS:: NC_000009.12:g.84723663T>C, NC_000009.12:g.84723663T>G, NC_000009.11:g.87338578T>C, NC_000009.11:g.87338578T>G, NG_012201.2:g.60113T>C, NG_012201.2:g.60113T>G, NM_006180.6:c.674T>C, NM_006180.6:c.674T>G, NM_006180.5:c.674T>C, NM_006180.5:c.674T>G, NM_006180.4:c.674T>C, NM_006180.4:c.674T>G, NM_006180.3:c.674T>C, NM_006180.3:c.674T>G, NM_001018066.3:c.674T>C, NM_001018066.3:c.674T>G, NM_001018066.2:c.674T>C, NM_001018066.2:c.674T>G, NM_001018064.3:c.674T>C, NM_001018064.3:c.674T>G, NM_001018064.2:c.674T>C, NM_001018064.2:c.674T>G, NM_001018064.1:c.674T>C, NM_001018064.1:c.674T>G, NM_001007097.3:c.674T>C, NM_001007097.3:c.674T>G, NM_001007097.2:c.674T>C, NM_001007097.2:c.674T>G, NM_001007097.1:c.674T>C, NM_001007097.1:c.674T>G, NM_001018065.2:c.674T>C, NM_001018065.2:c.674T>G, NM_001291937.2:c.674T>C, NM_001291937.2:c.674T>G, NM_001291937.1:c.674T>C, NM_001291937.1:c.674T>G, NM_001369532.1:c.674T>C, NM_001369532.1:c.674T>G, NM_001369533.1:c.674T>C, NM_001369533.1:c.674T>G, NM_001369534.1:c.674T>C, NM_001369534.1:c.674T>G, NM_001369537.1:c.674T>C, NM_001369537.1:c.674T>G, NM_001369538.1:c.674T>C, NM_001369538.1:c.674T>G, NM_001369536.1:c.206T>C, NM_001369536.1:c.206T>G, NM_001369535.1:c.206T>C, NM_001369535.1:c.206T>G, NM_001369544.1:c.674T>C, NM_001369544.1:c.674T>G, NM_001369543.1:c.674T>C, NM_001369543.1:c.674T>G, NM_001369541.1:c.674T>C, NM_001369541.1:c.674T>G, NM_001369542.1:c.674T>C, NM_001369542.1:c.674T>G, NM_001369545.1:c.674T>C, NM_001369545.1:c.674T>G, NM_001369539.1:c.674T>C, NM_001369539.1:c.674T>G, NM_001369548.1:c.674T>C, NM_001369548.1:c.674T>G, NM_001369547.1:c.674T>C, NM_001369547.1:c.674T>G, NM_001369540.1:c.674T>C, NM_001369540.1:c.674T>G, NM_001369546.1:c.674T>C, NM_001369546.1:c.674T>G, NM_001369549.1:c.674T>C, NM_001369549.1:c.674T>G, NM_001369552.1:c.206T>C, NM_001369552.1:c.206T>G, NM_001369551.1:c.206T>C, NM_001369551.1:c.206T>G, NM_001369550.1:c.206T>C, NM_001369550.1:c.206T>G, XM_005252001.4:c.674T>C, XM_005252001.4:c.674T>G, XM_005252001.3:c.674T>C, XM_005252001.3:c.674T>G, XM_005252001.2:c.674T>C, XM_005252001.2:c.674T>G, XM_005252001.1:c.674T>C, XM_005252001.1:c.674T>G, XM_005252003.4:c.674T>C, XM_005252003.4:c.674T>G, XM_005252003.3:c.674T>C, XM_005252003.3:c.674T>G, XM_005252003.2:c.674T>C, XM_005252003.2:c.674T>G, XM_005252003.1:c.674T>C, XM_005252003.1:c.674T>G, XM_011518718.4:c.674T>C, XM_011518718.4:c.674T>G, XM_011518718.3:c.674T>C, XM_011518718.3:c.674T>G, XM_011518718.2:c.674T>C, XM_011518718.2:c.674T>G, XM_011518718.1:c.674T>C, XM_011518718.1:c.674T>G, XM_017014751.3:c.674T>C, XM_017014751.3:c.674T>G, XM_017014751.2:c.674T>C, XM_017014751.2:c.674T>G, XM_017014751.1:c.674T>C, XM_017014751.1:c.674T>G, XM_017014753.3:c.674T>C, XM_017014753.3:c.674T>G, XM_017014753.2:c.674T>C, XM_017014753.2:c.674T>G, XM_017014753.1:c.674T>C, XM_017014753.1:c.674T>G, XM_005252004.3:c.674T>C, XM_005252004.3:c.674T>G, XM_005252004.2:c.674T>C, XM_005252004.2:c.674T>G, XM_005252004.1:c.674T>C, XM_005252004.1:c.674T>G, XM_017014760.3:c.674T>C, XM_017014760.3:c.674T>G, XM_017014760.2:c.674T>C, XM_017014760.2:c.674T>G, XM_017014760.1:c.674T>C, XM_017014760.1:c.674T>G, XM_017014752.2:c.674T>C, XM_017014752.2:c.674T>G, XM_017014752.1:c.674T>C, XM_017014752.1:c.674T>G, XM_047423432.1:c.674T>C, XM_047423432.1:c.674T>G, XM_047423433.1:c.674T>C, XM_047423433.1:c.674T>G, XM_017014755.1:c.674T>C, XM_017014755.1:c.674T>G, NM_001381928.1:c.674T>C, NM_001381928.1:c.674T>G, NP_006171.2:p.Val225Ala, NP_006171.2:p.Val225Gly, NP_001018076.1:p.Val225Ala, NP_001018076.1:p.Val225Gly, NP_001018074.1:p.Val225Ala, NP_001018074.1:p.Val225Gly, NP_001007098.1:p.Val225Ala, NP_001007098.1:p.Val225Gly, NP_001018075.1:p.Val225Ala, NP_001018075.1:p.Val225Gly, NP_001278866.1:p.Val225Ala, NP_001278866.1:p.Val225Gly, NP_001356461.1:p.Val225Ala, NP_001356461.1:p.Val225Gly, NP_001356462.1:p.Val225Ala, NP_001356462.1:p.Val225Gly, NP_001356463.1:p.Val225Ala, NP_001356463.1:p.Val225Gly, NP_001356466.1:p.Val225Ala, NP_001356466.1:p.Val225Gly, NP_001356467.1:p.Val225Ala, NP_001356467.1:p.Val225Gly, NP_001356465.1:p.Val69Ala, NP_001356465.1:p.Val69Gly, NP_001356464.1:p.Val69Ala, NP_001356464.1:p.Val69Gly, NP_001356473.1:p.Val225Ala, NP_001356473.1:p.Val225Gly, NP_001356472.1:p.Val225Ala, NP_001356472.1:p.Val225Gly, NP_001356470.1:p.Val225Ala, NP_001356470.1:p.Val225Gly, NP_001356471.1:p.Val225Ala, NP_001356471.1:p.Val225Gly, NP_001356474.1:p.Val225Ala, NP_001356474.1:p.Val225Gly, NP_001356468.1:p.Val225Ala, NP_001356468.1:p.Val225Gly, NP_001356477.1:p.Val225Ala, NP_001356477.1:p.Val225Gly, NP_001356476.1:p.Val225Ala, NP_001356476.1:p.Val225Gly, NP_001356469.1:p.Val225Ala, NP_001356469.1:p.Val225Gly, NP_001356475.1:p.Val225Ala, NP_001356475.1:p.Val225Gly, NP_001356478.1:p.Val225Ala, NP_001356478.1:p.Val225Gly, NP_001356481.1:p.Val69Ala, NP_001356481.1:p.Val69Gly, NP_001356480.1:p.Val69Ala, NP_001356480.1:p.Val69Gly, NP_001356479.1:p.Val69Ala, NP_001356479.1:p.Val69Gly, XP_005252058.1:p.Val225Ala, XP_005252058.1:p.Val225Gly, XP_005252060.1:p.Val225Ala, XP_005252060.1:p.Val225Gly, XP_011517020.1:p.Val225Ala, XP_011517020.1:p.Val225Gly, XP_016870240.1:p.Val225Ala, XP_016870240.1:p.Val225Gly, XP_016870242.1:p.Val225Ala, XP_016870242.1:p.Val225Gly, XP_005252061.1:p.Val225Ala, XP_005252061.1:p.Val225Gly, XP_016870249.1:p.Val225Ala, XP_016870249.1:p.Val225Gly, XP_016870241.1:p.Val225Ala, XP_016870241.1:p.Val225Gly, XP_047279388.1:p.Val225Ala, XP_047279388.1:p.Val225Gly, XP_047279389.1:p.Val225Ala, XP_047279389.1:p.Val225Gly, XP_016870244.1:p.Val225Ala, XP_016870244.1:p.Val225Gly

Select item 14744851809.

rs1474485180 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTC>- [Show Flanks]
Chromosome:: 9:84670754 (GRCh38)
9:87285669 (GRCh37)
Canonical SPDI:: NC_000009.12:84670750:GTCGTC:GTC
Gene:: NTRK2 (Varview)
Functional Consequence:: inframe_deletion,initiator_codon_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTCGTC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.84670751GTC[1], NC_000009.11:g.87285666GTC[1], NG_012201.2:g.7201GTC[1], NM_006180.6:c.3GTC[1], NM_006180.5:c.3GTC[1], NM_006180.4:c.3GTC[1], NM_006180.3:c.3GTC[1], NM_001018066.3:c.3GTC[1], NM_001018066.2:c.3GTC[1], NM_001018064.3:c.3GTC[1], NM_001018064.2:c.3GTC[1], NM_001018064.1:c.3GTC[1], NM_001007097.3:c.3GTC[1], NM_001007097.2:c.3GTC[1], NM_001007097.1:c.3GTC[1], NM_001018065.2:c.3GTC[1], NM_001291937.2:c.3GTC[1], NM_001291937.1:c.3GTC[1], NM_001369532.1:c.3GTC[1], NM_001369533.1:c.3GTC[1], NM_001369534.1:c.3GTC[1], NM_001369537.1:c.3GTC[1], NM_001369538.1:c.3GTC[1], NM_001369544.1:c.3GTC[1], NM_001369543.1:c.3GTC[1], NM_001369541.1:c.3GTC[1], NM_001369542.1:c.3GTC[1], NM_001369545.1:c.3GTC[1], NM_001369539.1:c.3GTC[1], NM_001369548.1:c.3GTC[1], NM_001369547.1:c.3GTC[1], NM_001369540.1:c.3GTC[1], NM_001369546.1:c.3GTC[1], NM_001369549.1:c.3GTC[1], XM_005252001.4:c.3GTC[1], XM_005252001.3:c.3GTC[1], XM_005252001.2:c.3GTC[1], XM_005252001.1:c.3GTC[1], XM_005252003.4:c.3GTC[1], XM_005252003.3:c.3GTC[1], XM_005252003.2:c.3GTC[1], XM_005252003.1:c.3GTC[1], XM_011518718.4:c.3GTC[1], XM_011518718.3:c.3GTC[1], XM_011518718.2:c.3GTC[1], XM_011518718.1:c.3GTC[1], XM_017014751.3:c.3GTC[1], XM_017014751.2:c.3GTC[1], XM_017014751.1:c.3GTC[1], XM_017014753.3:c.3GTC[1], XM_017014753.2:c.3GTC[1], XM_017014753.1:c.3GTC[1], XM_005252004.3:c.3GTC[1], XM_005252004.2:c.3GTC[1], XM_005252004.1:c.3GTC[1], XM_017014760.3:c.3GTC[1], XM_017014760.2:c.3GTC[1], XM_017014760.1:c.3GTC[1], XM_017014752.2:c.3GTC[1], XM_017014752.1:c.3GTC[1], XM_047423432.1:c.3GTC[1], XM_047423433.1:c.3GTC[1], XM_017014755.1:c.3GTC[1], NM_001381928.1:c.3GTC[1], NP_006171.2:p.Ser3del, NP_001018076.1:p.Ser3del, NP_001018074.1:p.Ser3del, NP_001007098.1:p.Ser3del, NP_001018075.1:p.Ser3del, NP_001278866.1:p.Ser3del, NP_001356461.1:p.Ser3del, NP_001356462.1:p.Ser3del, NP_001356463.1:p.Ser3del, NP_001356466.1:p.Ser3del, NP_001356467.1:p.Ser3del, NP_001356473.1:p.Ser3del, NP_001356472.1:p.Ser3del, NP_001356470.1:p.Ser3del, NP_001356471.1:p.Ser3del, NP_001356474.1:p.Ser3del, NP_001356468.1:p.Ser3del, NP_001356477.1:p.Ser3del, NP_001356476.1:p.Ser3del, NP_001356469.1:p.Ser3del, NP_001356475.1:p.Ser3del, NP_001356478.1:p.Ser3del, XP_005252058.1:p.Ser3del, XP_005252060.1:p.Ser3del, XP_011517020.1:p.Ser3del, XP_016870240.1:p.Ser3del, XP_016870242.1:p.Ser3del, XP_005252061.1:p.Ser3del, XP_016870249.1:p.Ser3del, XP_016870241.1:p.Ser3del, XP_047279388.1:p.Ser3del, XP_047279389.1:p.Ser3del, XP_016870244.1:p.Ser3del

Select item 147209375310.

rs1472093753 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:84744996 (GRCh38)
9:87359911 (GRCh37)
Canonical SPDI:: NC_000009.12:84744995:A:G,NC_000009.12:84744995:A:T
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.84744996A>G, NC_000009.12:g.84744996A>T, NC_000009.11:g.87359911A>G, NC_000009.11:g.87359911A>T, NG_012201.2:g.81446A>G, NG_012201.2:g.81446A>T, NM_006180.6:c.1219A>G, NM_006180.6:c.1219A>T, NM_006180.5:c.1219A>G, NM_006180.5:c.1219A>T, NM_006180.4:c.1219A>G, NM_006180.4:c.1219A>T, NM_006180.3:c.1219A>G, NM_006180.3:c.1219A>T, NM_001018066.3:c.1219A>G, NM_001018066.3:c.1219A>T, NM_001018066.2:c.1219A>G, NM_001018066.2:c.1219A>T, NM_001018064.3:c.1219A>G, NM_001018064.3:c.1219A>T, NM_001018064.2:c.1219A>G, NM_001018064.2:c.1219A>T, NM_001018064.1:c.1219A>G, NM_001018064.1:c.1219A>T, NM_001007097.3:c.1219A>G, NM_001007097.3:c.1219A>T, NM_001007097.2:c.1219A>G, NM_001007097.2:c.1219A>T, NM_001007097.1:c.1219A>G, NM_001007097.1:c.1219A>T, NM_001018065.2:c.1219A>G, NM_001018065.2:c.1219A>T, NM_001291937.2:c.1180A>G, NM_001291937.2:c.1180A>T, NM_001291937.1:c.1180A>G, NM_001291937.1:c.1180A>T, NM_001369532.1:c.1219A>G, NM_001369532.1:c.1219A>T, NM_001369533.1:c.1219A>G, NM_001369533.1:c.1219A>T, NM_001369534.1:c.1183A>G, NM_001369534.1:c.1183A>T, NM_001369537.1:c.1219A>G, NM_001369537.1:c.1219A>T, NM_001369538.1:c.1219A>G, NM_001369538.1:c.1219A>T, NM_001369536.1:c.751A>G, NM_001369536.1:c.751A>T, NM_001369535.1:c.751A>G, NM_001369535.1:c.751A>T, NM_001369544.1:c.1219A>G, NM_001369544.1:c.1219A>T, NM_001369543.1:c.1219A>G, NM_001369543.1:c.1219A>T, NM_001369541.1:c.1219A>G, NM_001369541.1:c.1219A>T, NM_001369542.1:c.1219A>G, NM_001369542.1:c.1219A>T, NM_001369545.1:c.1219A>G, NM_001369545.1:c.1219A>T, NM_001369539.1:c.1219A>G, NM_001369539.1:c.1219A>T, NM_001369548.1:c.1219A>G, NM_001369548.1:c.1219A>T, NM_001369547.1:c.1219A>G, NM_001369547.1:c.1219A>T, NM_001369540.1:c.1219A>G, NM_001369540.1:c.1219A>T, NM_001369546.1:c.1180A>G, NM_001369546.1:c.1180A>T, NM_001369549.1:c.1219A>G, NM_001369549.1:c.1219A>T, NM_001369552.1:c.751A>G, NM_001369552.1:c.751A>T, NM_001369551.1:c.751A>G, NM_001369551.1:c.751A>T, NM_001369550.1:c.751A>G, NM_001369550.1:c.751A>T, XM_005252001.4:c.1219A>G, XM_005252001.4:c.1219A>T, XM_005252001.3:c.1219A>G, XM_005252001.3:c.1219A>T, XM_005252001.2:c.1219A>G, XM_005252001.2:c.1219A>T, XM_005252001.1:c.1219A>G, XM_005252001.1:c.1219A>T, XM_005252003.4:c.1219A>G, XM_005252003.4:c.1219A>T, XM_005252003.3:c.1219A>G, XM_005252003.3:c.1219A>T, XM_005252003.2:c.1219A>G, XM_005252003.2:c.1219A>T, XM_005252003.1:c.1219A>G, XM_005252003.1:c.1219A>T, XM_011518718.4:c.1219A>G, XM_011518718.4:c.1219A>T, XM_011518718.3:c.1219A>G, XM_011518718.3:c.1219A>T, XM_011518718.2:c.1219A>G, XM_011518718.2:c.1219A>T, XM_011518718.1:c.1219A>G, XM_011518718.1:c.1219A>T, XM_017014751.3:c.1219A>G, XM_017014751.3:c.1219A>T, XM_017014751.2:c.1219A>G, XM_017014751.2:c.1219A>T, XM_017014751.1:c.1219A>G, XM_017014751.1:c.1219A>T, XM_017014753.3:c.1219A>G, XM_017014753.3:c.1219A>T, XM_017014753.2:c.1219A>G, XM_017014753.2:c.1219A>T, XM_017014753.1:c.1219A>G, XM_017014753.1:c.1219A>T, XM_005252004.3:c.1219A>G, XM_005252004.3:c.1219A>T, XM_005252004.2:c.1219A>G, XM_005252004.2:c.1219A>T, XM_005252004.1:c.1219A>G, XM_005252004.1:c.1219A>T, XM_017014760.3:c.1219A>G, XM_017014760.3:c.1219A>T, XM_017014760.2:c.1219A>G, XM_017014760.2:c.1219A>T, XM_017014760.1:c.1219A>G, XM_017014760.1:c.1219A>T, XM_017014752.2:c.1219A>G, XM_017014752.2:c.1219A>T, XM_017014752.1:c.1219A>G, XM_017014752.1:c.1219A>T, XM_047423432.1:c.1219A>G, XM_047423432.1:c.1219A>T, XM_047423433.1:c.1219A>G, XM_047423433.1:c.1219A>T, XM_017014755.1:c.1219A>G, XM_017014755.1:c.1219A>T, NM_001381928.1:c.1219A>G, NM_001381928.1:c.1219A>T, NP_006171.2:p.Ile407Val, NP_006171.2:p.Ile407Phe, NP_001018076.1:p.Ile407Val, NP_001018076.1:p.Ile407Phe, NP_001018074.1:p.Ile407Val, NP_001018074.1:p.Ile407Phe, NP_001007098.1:p.Ile407Val, NP_001007098.1:p.Ile407Phe, NP_001018075.1:p.Ile407Val, NP_001018075.1:p.Ile407Phe, NP_001278866.1:p.Ile394Val, NP_001278866.1:p.Ile394Phe, NP_001356461.1:p.Ile407Val, NP_001356461.1:p.Ile407Phe, NP_001356462.1:p.Ile407Val, NP_001356462.1:p.Ile407Phe, NP_001356463.1:p.Ile395Val, NP_001356463.1:p.Ile395Phe, NP_001356466.1:p.Ile407Val, NP_001356466.1:p.Ile407Phe, NP_001356467.1:p.Ile407Val, NP_001356467.1:p.Ile407Phe, NP_001356465.1:p.Ile251Val, NP_001356465.1:p.Ile251Phe, NP_001356464.1:p.Ile251Val, NP_001356464.1:p.Ile251Phe, NP_001356473.1:p.Ile407Val, NP_001356473.1:p.Ile407Phe, NP_001356472.1:p.Ile407Val, NP_001356472.1:p.Ile407Phe, NP_001356470.1:p.Ile407Val, NP_001356470.1:p.Ile407Phe, NP_001356471.1:p.Ile407Val, NP_001356471.1:p.Ile407Phe, NP_001356474.1:p.Ile407Val, NP_001356474.1:p.Ile407Phe, NP_001356468.1:p.Ile407Val, NP_001356468.1:p.Ile407Phe, NP_001356477.1:p.Ile407Val, NP_001356477.1:p.Ile407Phe, NP_001356476.1:p.Ile407Val, NP_001356476.1:p.Ile407Phe, NP_001356469.1:p.Ile407Val, NP_001356469.1:p.Ile407Phe, NP_001356475.1:p.Ile394Val, NP_001356475.1:p.Ile394Phe, NP_001356478.1:p.Ile407Val, NP_001356478.1:p.Ile407Phe, NP_001356481.1:p.Ile251Val, NP_001356481.1:p.Ile251Phe, NP_001356480.1:p.Ile251Val, NP_001356480.1:p.Ile251Phe, NP_001356479.1:p.Ile251Val, NP_001356479.1:p.Ile251Phe, XP_005252058.1:p.Ile407Val, XP_005252058.1:p.Ile407Phe, XP_005252060.1:p.Ile407Val, XP_005252060.1:p.Ile407Phe, XP_011517020.1:p.Ile407Val, XP_011517020.1:p.Ile407Phe, XP_016870240.1:p.Ile407Val, XP_016870240.1:p.Ile407Phe, XP_016870242.1:p.Ile407Val, XP_016870242.1:p.Ile407Phe, XP_005252061.1:p.Ile407Val, XP_005252061.1:p.Ile407Phe, XP_016870249.1:p.Ile407Val, XP_016870249.1:p.Ile407Phe, XP_016870241.1:p.Ile407Val, XP_016870241.1:p.Ile407Phe, XP_047279388.1:p.Ile407Val, XP_047279388.1:p.Ile407Phe, XP_047279389.1:p.Ile407Val, XP_047279389.1:p.Ile407Phe, XP_016870244.1:p.Ile407Val, XP_016870244.1:p.Ile407Phe

Select item 147011706011.

rs1470117060 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:84670941 (GRCh38)
9:87285857 (GRCh37)
Canonical SPDI:: NC_000009.12:84670941::T
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0016/7 (ALFA)
HGVS:: NC_000009.12:g.84670941_84670942insT, NC_000009.11:g.87285856_87285857insT, NG_012201.2:g.7391_7392insT, NM_006180.6:c.193_194insT, NM_006180.5:c.193_194insT, NM_006180.4:c.193_194insT, NM_006180.3:c.193_194insT, NM_001018066.3:c.193_194insT, NM_001018066.2:c.193_194insT, NM_001018064.3:c.193_194insT, NM_001018064.2:c.193_194insT, NM_001018064.1:c.193_194insT, NM_001007097.3:c.193_194insT, NM_001007097.2:c.193_194insT, NM_001007097.1:c.193_194insT, NM_001018065.2:c.193_194insT, NM_001291937.2:c.193_194insT, NM_001291937.1:c.193_194insT, NM_001369532.1:c.193_194insT, NM_001369533.1:c.193_194insT, NM_001369534.1:c.193_194insT, NM_001369537.1:c.193_194insT, NM_001369538.1:c.193_194insT, NM_001369544.1:c.193_194insT, NM_001369543.1:c.193_194insT, NM_001369541.1:c.193_194insT, NM_001369542.1:c.193_194insT, NM_001369545.1:c.193_194insT, NM_001369539.1:c.193_194insT, NM_001369548.1:c.193_194insT, NM_001369547.1:c.193_194insT, NM_001369540.1:c.193_194insT, NM_001369546.1:c.193_194insT, NM_001369549.1:c.193_194insT, XM_005252001.4:c.193_194insT, XM_005252001.3:c.193_194insT, XM_005252001.2:c.193_194insT, XM_005252001.1:c.193_194insT, XM_005252003.4:c.193_194insT, XM_005252003.3:c.193_194insT, XM_005252003.2:c.193_194insT, XM_005252003.1:c.193_194insT, XM_011518718.4:c.193_194insT, XM_011518718.3:c.193_194insT, XM_011518718.2:c.193_194insT, XM_011518718.1:c.193_194insT, XM_017014751.3:c.193_194insT, XM_017014751.2:c.193_194insT, XM_017014751.1:c.193_194insT, XM_017014753.3:c.193_194insT, XM_017014753.2:c.193_194insT, XM_017014753.1:c.193_194insT, XM_005252004.3:c.193_194insT, XM_005252004.2:c.193_194insT, XM_005252004.1:c.193_194insT, XM_017014760.3:c.193_194insT, XM_017014760.2:c.193_194insT, XM_017014760.1:c.193_194insT, XM_017014752.2:c.193_194insT, XM_017014752.1:c.193_194insT, XM_047423432.1:c.193_194insT, XM_047423433.1:c.193_194insT, XM_017014755.1:c.193_194insT, NM_001381928.1:c.193_194insT, NP_006171.2:p.Pro65fs, NP_001018076.1:p.Pro65fs, NP_001018074.1:p.Pro65fs, NP_001007098.1:p.Pro65fs, NP_001018075.1:p.Pro65fs, NP_001278866.1:p.Pro65fs, NP_001356461.1:p.Pro65fs, NP_001356462.1:p.Pro65fs, NP_001356463.1:p.Pro65fs, NP_001356466.1:p.Pro65fs, NP_001356467.1:p.Pro65fs, NP_001356473.1:p.Pro65fs, NP_001356472.1:p.Pro65fs, NP_001356470.1:p.Pro65fs, NP_001356471.1:p.Pro65fs, NP_001356474.1:p.Pro65fs, NP_001356468.1:p.Pro65fs, NP_001356477.1:p.Pro65fs, NP_001356476.1:p.Pro65fs, NP_001356469.1:p.Pro65fs, NP_001356475.1:p.Pro65fs, NP_001356478.1:p.Pro65fs, XP_005252058.1:p.Pro65fs, XP_005252060.1:p.Pro65fs, XP_011517020.1:p.Pro65fs, XP_016870240.1:p.Pro65fs, XP_016870242.1:p.Pro65fs, XP_005252061.1:p.Pro65fs, XP_016870249.1:p.Pro65fs, XP_016870241.1:p.Pro65fs, XP_047279388.1:p.Pro65fs, XP_047279389.1:p.Pro65fs, XP_016870244.1:p.Pro65fs

Select item 146842827512.

rs1468428275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:84867283 (GRCh38)
9:87482198 (GRCh37)
Canonical SPDI:: NC_000009.12:84867282:C:A,NC_000009.12:84867282:C:G,NC_000009.12:84867282:C:T
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.84867283C>A, NC_000009.12:g.84867283C>G, NC_000009.12:g.84867283C>T, NC_000009.11:g.87482198C>A, NC_000009.11:g.87482198C>G, NC_000009.11:g.87482198C>T, NG_012201.2:g.203733C>A, NG_012201.2:g.203733C>G, NG_012201.2:g.203733C>T, NM_006180.6:c.1485C>A, NM_006180.6:c.1485C>G, NM_006180.6:c.1485C>T, NM_006180.5:c.1485C>A, NM_006180.5:c.1485C>G, NM_006180.5:c.1485C>T, NM_006180.4:c.1485C>A, NM_006180.4:c.1485C>G, NM_006180.4:c.1485C>T, NM_006180.3:c.1485C>A, NM_006180.3:c.1485C>G, NM_006180.3:c.1485C>T, NM_001018066.3:c.1437C>A, NM_001018066.3:c.1437C>G, NM_001018066.3:c.1437C>T, NM_001018066.2:c.1437C>A, NM_001018066.2:c.1437C>G, NM_001018066.2:c.1437C>T, NM_001018064.3:c.1437C>A, NM_001018064.3:c.1437C>G, NM_001018064.3:c.1437C>T, NM_001018064.2:c.1437C>A, NM_001018064.2:c.1437C>G, NM_001018064.2:c.1437C>T, NM_001018064.1:c.1437C>A, NM_001018064.1:c.1437C>G, NM_001018064.1:c.1437C>T, NM_001018065.2:c.1485C>A, NM_001018065.2:c.1485C>G, NM_001018065.2:c.1485C>T, NM_001369532.1:c.1437C>A, NM_001369532.1:c.1437C>G, NM_001369532.1:c.1437C>T, NM_001369533.1:c.1437C>A, NM_001369533.1:c.1437C>G, NM_001369533.1:c.1437C>T, NM_001369534.1:c.1401C>A, NM_001369534.1:c.1401C>G, NM_001369534.1:c.1401C>T, NM_001369537.1:c.1485C>A, NM_001369537.1:c.1485C>G, NM_001369537.1:c.1485C>T, NM_001369538.1:c.1437C>A, NM_001369538.1:c.1437C>G, NM_001369538.1:c.1437C>T, NM_001369536.1:c.1017C>A, NM_001369536.1:c.1017C>G, NM_001369536.1:c.1017C>T, NM_001369535.1:c.969C>A, NM_001369535.1:c.969C>G, NM_001369535.1:c.969C>T, XM_005252001.4:c.1485C>A, XM_005252001.4:c.1485C>G, XM_005252001.4:c.1485C>T, XM_005252001.3:c.1485C>A, XM_005252001.3:c.1485C>G, XM_005252001.3:c.1485C>T, XM_005252001.2:c.1485C>A, XM_005252001.2:c.1485C>G, XM_005252001.2:c.1485C>T, XM_005252001.1:c.1485C>A, XM_005252001.1:c.1485C>G, XM_005252001.1:c.1485C>T, XM_005252003.4:c.1485C>A, XM_005252003.4:c.1485C>G, XM_005252003.4:c.1485C>T, XM_005252003.3:c.1485C>A, XM_005252003.3:c.1485C>G, XM_005252003.3:c.1485C>T, XM_005252003.2:c.1485C>A, XM_005252003.2:c.1485C>G, XM_005252003.2:c.1485C>T, XM_005252003.1:c.1485C>A, XM_005252003.1:c.1485C>G, XM_005252003.1:c.1485C>T, XM_011518718.4:c.1437C>A, XM_011518718.4:c.1437C>G, XM_011518718.4:c.1437C>T, XM_011518718.3:c.1437C>A, XM_011518718.3:c.1437C>G, XM_011518718.3:c.1437C>T, XM_011518718.2:c.1437C>A, XM_011518718.2:c.1437C>G, XM_011518718.2:c.1437C>T, XM_011518718.1:c.1437C>A, XM_011518718.1:c.1437C>G, XM_011518718.1:c.1437C>T, XM_017014751.3:c.1485C>A, XM_017014751.3:c.1485C>G, XM_017014751.3:c.1485C>T, XM_017014751.2:c.1485C>A, XM_017014751.2:c.1485C>G, XM_017014751.2:c.1485C>T, XM_017014751.1:c.1485C>A, XM_017014751.1:c.1485C>G, XM_017014751.1:c.1485C>T, XM_017014753.3:c.1437C>A, XM_017014753.3:c.1437C>G, XM_017014753.3:c.1437C>T, XM_017014753.2:c.1437C>A, XM_017014753.2:c.1437C>G, XM_017014753.2:c.1437C>T, XM_017014753.1:c.1437C>A, XM_017014753.1:c.1437C>G, XM_017014753.1:c.1437C>T, XM_005252004.3:c.1485C>A, XM_005252004.3:c.1485C>G, XM_005252004.3:c.1485C>T, XM_005252004.2:c.1485C>A, XM_005252004.2:c.1485C>G, XM_005252004.2:c.1485C>T, XM_005252004.1:c.1485C>A, XM_005252004.1:c.1485C>G, XM_005252004.1:c.1485C>T, XM_017014752.2:c.1437C>A, XM_017014752.2:c.1437C>G, XM_017014752.2:c.1437C>T, XM_017014752.1:c.1437C>A, XM_017014752.1:c.1437C>G, XM_017014752.1:c.1437C>T, XM_047423432.1:c.1485C>A, XM_047423432.1:c.1485C>G, XM_047423432.1:c.1485C>T, XM_047423433.1:c.1485C>A, XM_047423433.1:c.1485C>G, XM_047423433.1:c.1485C>T, XM_017014755.1:c.1485C>A, XM_017014755.1:c.1485C>G, XM_017014755.1:c.1485C>T, NM_001381928.1:c.1485C>A, NM_001381928.1:c.1485C>G, NM_001381928.1:c.1485C>T, NP_006171.2:p.Ser495Arg, NP_006171.2:p.Ser495Arg, NP_001018076.1:p.Ser479Arg, NP_001018076.1:p.Ser479Arg, NP_001018074.1:p.Ser479Arg, NP_001018074.1:p.Ser479Arg, NP_001018075.1:p.Ser495Arg, NP_001018075.1:p.Ser495Arg, NP_001356461.1:p.Ser479Arg, NP_001356461.1:p.Ser479Arg, NP_001356462.1:p.Ser479Arg, NP_001356462.1:p.Ser479Arg, NP_001356463.1:p.Ser467Arg, NP_001356463.1:p.Ser467Arg, NP_001356466.1:p.Ser495Arg, NP_001356466.1:p.Ser495Arg, NP_001356467.1:p.Ser479Arg, NP_001356467.1:p.Ser479Arg, NP_001356465.1:p.Ser339Arg, NP_001356465.1:p.Ser339Arg, NP_001356464.1:p.Ser323Arg, NP_001356464.1:p.Ser323Arg, XP_005252058.1:p.Ser495Arg, XP_005252058.1:p.Ser495Arg, XP_005252060.1:p.Ser495Arg, XP_005252060.1:p.Ser495Arg, XP_011517020.1:p.Ser479Arg, XP_011517020.1:p.Ser479Arg, XP_016870240.1:p.Ser495Arg, XP_016870240.1:p.Ser495Arg, XP_016870242.1:p.Ser479Arg, XP_016870242.1:p.Ser479Arg, XP_005252061.1:p.Ser495Arg, XP_005252061.1:p.Ser495Arg, XP_016870241.1:p.Ser479Arg, XP_016870241.1:p.Ser479Arg, XP_047279388.1:p.Ser495Arg, XP_047279388.1:p.Ser495Arg, XP_047279389.1:p.Ser495Arg, XP_047279389.1:p.Ser495Arg, XP_016870244.1:p.Ser495Arg, XP_016870244.1:p.Ser495Arg

Select item 146792781513.

rs1467927815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:84745019 (GRCh38)
9:87359934 (GRCh37)
Canonical SPDI:: NC_000009.12:84745018:T:C
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.84745019T>C, NC_000009.11:g.87359934T>C, NG_012201.2:g.81469T>C, NM_006180.6:c.1242T>C, NM_006180.5:c.1242T>C, NM_006180.4:c.1242T>C, NM_006180.3:c.1242T>C, NM_001018066.3:c.1242T>C, NM_001018066.2:c.1242T>C, NM_001018064.3:c.1242T>C, NM_001018064.2:c.1242T>C, NM_001018064.1:c.1242T>C, NM_001007097.3:c.1242T>C, NM_001007097.2:c.1242T>C, NM_001007097.1:c.1242T>C, NM_001018065.2:c.1242T>C, NM_001291937.2:c.1203T>C, NM_001291937.1:c.1203T>C, NM_001369532.1:c.1242T>C, NM_001369533.1:c.1242T>C, NM_001369534.1:c.1206T>C, NM_001369537.1:c.1242T>C, NM_001369538.1:c.1242T>C, NM_001369536.1:c.774T>C, NM_001369535.1:c.774T>C, NM_001369544.1:c.1242T>C, NM_001369543.1:c.1242T>C, NM_001369541.1:c.1242T>C, NM_001369542.1:c.1242T>C, NM_001369545.1:c.1242T>C, NM_001369539.1:c.1242T>C, NM_001369548.1:c.1242T>C, NM_001369547.1:c.1242T>C, NM_001369540.1:c.1242T>C, NM_001369546.1:c.1203T>C, NM_001369549.1:c.1242T>C, NM_001369552.1:c.774T>C, NM_001369551.1:c.774T>C, NM_001369550.1:c.774T>C, XM_005252001.4:c.1242T>C, XM_005252001.3:c.1242T>C, XM_005252001.2:c.1242T>C, XM_005252001.1:c.1242T>C, XM_005252003.4:c.1242T>C, XM_005252003.3:c.1242T>C, XM_005252003.2:c.1242T>C, XM_005252003.1:c.1242T>C, XM_011518718.4:c.1242T>C, XM_011518718.3:c.1242T>C, XM_011518718.2:c.1242T>C, XM_011518718.1:c.1242T>C, XM_017014751.3:c.1242T>C, XM_017014751.2:c.1242T>C, XM_017014751.1:c.1242T>C, XM_017014753.3:c.1242T>C, XM_017014753.2:c.1242T>C, XM_017014753.1:c.1242T>C, XM_005252004.3:c.1242T>C, XM_005252004.2:c.1242T>C, XM_005252004.1:c.1242T>C, XM_017014760.3:c.1242T>C, XM_017014760.2:c.1242T>C, XM_017014760.1:c.1242T>C, XM_017014752.2:c.1242T>C, XM_017014752.1:c.1242T>C, XM_047423432.1:c.1242T>C, XM_047423433.1:c.1242T>C, XM_017014755.1:c.1242T>C, NM_001381928.1:c.1242T>C

Select item 146589242714.

rs1465892427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:84670797 (GRCh38)
9:87285712 (GRCh37)
Canonical SPDI:: NC_000009.12:84670796:G:C
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.84670797G>C, NC_000009.11:g.87285712G>C, NG_012201.2:g.7247G>C, NM_006180.6:c.49G>C, NM_006180.5:c.49G>C, NM_006180.4:c.49G>C, NM_006180.3:c.49G>C, NM_001018066.3:c.49G>C, NM_001018066.2:c.49G>C, NM_001018064.3:c.49G>C, NM_001018064.2:c.49G>C, NM_001018064.1:c.49G>C, NM_001007097.3:c.49G>C, NM_001007097.2:c.49G>C, NM_001007097.1:c.49G>C, NM_001018065.2:c.49G>C, NM_001291937.2:c.49G>C, NM_001291937.1:c.49G>C, NM_001369532.1:c.49G>C, NM_001369533.1:c.49G>C, NM_001369534.1:c.49G>C, NM_001369537.1:c.49G>C, NM_001369538.1:c.49G>C, NM_001369544.1:c.49G>C, NM_001369543.1:c.49G>C, NM_001369541.1:c.49G>C, NM_001369542.1:c.49G>C, NM_001369545.1:c.49G>C, NM_001369539.1:c.49G>C, NM_001369548.1:c.49G>C, NM_001369547.1:c.49G>C, NM_001369540.1:c.49G>C, NM_001369546.1:c.49G>C, NM_001369549.1:c.49G>C, XM_005252001.4:c.49G>C, XM_005252001.3:c.49G>C, XM_005252001.2:c.49G>C, XM_005252001.1:c.49G>C, XM_005252003.4:c.49G>C, XM_005252003.3:c.49G>C, XM_005252003.2:c.49G>C, XM_005252003.1:c.49G>C, XM_011518718.4:c.49G>C, XM_011518718.3:c.49G>C, XM_011518718.2:c.49G>C, XM_011518718.1:c.49G>C, XM_017014751.3:c.49G>C, XM_017014751.2:c.49G>C, XM_017014751.1:c.49G>C, XM_017014753.3:c.49G>C, XM_017014753.2:c.49G>C, XM_017014753.1:c.49G>C, XM_005252004.3:c.49G>C, XM_005252004.2:c.49G>C, XM_005252004.1:c.49G>C, XM_017014760.3:c.49G>C, XM_017014760.2:c.49G>C, XM_017014760.1:c.49G>C, XM_017014752.2:c.49G>C, XM_017014752.1:c.49G>C, XM_047423432.1:c.49G>C, XM_047423433.1:c.49G>C, XM_017014755.1:c.49G>C, NM_001381928.1:c.49G>C, NP_006171.2:p.Gly17Arg, NP_001018076.1:p.Gly17Arg, NP_001018074.1:p.Gly17Arg, NP_001007098.1:p.Gly17Arg, NP_001018075.1:p.Gly17Arg, NP_001278866.1:p.Gly17Arg, NP_001356461.1:p.Gly17Arg, NP_001356462.1:p.Gly17Arg, NP_001356463.1:p.Gly17Arg, NP_001356466.1:p.Gly17Arg, NP_001356467.1:p.Gly17Arg, NP_001356473.1:p.Gly17Arg, NP_001356472.1:p.Gly17Arg, NP_001356470.1:p.Gly17Arg, NP_001356471.1:p.Gly17Arg, NP_001356474.1:p.Gly17Arg, NP_001356468.1:p.Gly17Arg, NP_001356477.1:p.Gly17Arg, NP_001356476.1:p.Gly17Arg, NP_001356469.1:p.Gly17Arg, NP_001356475.1:p.Gly17Arg, NP_001356478.1:p.Gly17Arg, XP_005252058.1:p.Gly17Arg, XP_005252060.1:p.Gly17Arg, XP_011517020.1:p.Gly17Arg, XP_016870240.1:p.Gly17Arg, XP_016870242.1:p.Gly17Arg, XP_005252061.1:p.Gly17Arg, XP_016870249.1:p.Gly17Arg, XP_016870241.1:p.Gly17Arg, XP_047279388.1:p.Gly17Arg, XP_047279389.1:p.Gly17Arg, XP_016870244.1:p.Gly17Arg

Select item 145657413515.

rs1456574135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:84727677 (GRCh38)
9:87342592 (GRCh37)
Canonical SPDI:: NC_000009.12:84727676:G:A
Gene:: NTRK2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.84727677G>A, NC_000009.11:g.87342592G>A, NG_012201.2:g.64127G>A, NM_006180.6:c.877G>A, NM_006180.5:c.877G>A, NM_006180.4:c.877G>A, NM_006180.3:c.877G>A, NM_001018066.3:c.877G>A, NM_001018066.2:c.877G>A, NM_001018064.3:c.877G>A, NM_001018064.2:c.877G>A, NM_001018064.1:c.877G>A, NM_001007097.3:c.877G>A, NM_001007097.2:c.877G>A, NM_001007097.1:c.877G>A, NM_001018065.2:c.877G>A, NM_001369532.1:c.877G>A, NM_001369533.1:c.877G>A, NM_001369534.1:c.877G>A, NM_001369537.1:c.877G>A, NM_001369538.1:c.877G>A, NM_001369536.1:c.409G>A, NM_001369535.1:c.409G>A, NM_001369544.1:c.877G>A, NM_001369543.1:c.877G>A, NM_001369541.1:c.877G>A, NM_001369542.1:c.877G>A, NM_001369545.1:c.877G>A, NM_001369539.1:c.877G>A, NM_001369548.1:c.877G>A, NM_001369547.1:c.877G>A, NM_001369540.1:c.877G>A, NM_001369549.1:c.877G>A, NM_001369552.1:c.409G>A, NM_001369551.1:c.409G>A, NM_001369550.1:c.409G>A, XM_005252001.4:c.877G>A, XM_005252001.3:c.877G>A, XM_005252001.2:c.877G>A, XM_005252001.1:c.877G>A, XM_005252003.4:c.877G>A, XM_005252003.3:c.877G>A, XM_005252003.2:c.877G>A, XM_005252003.1:c.877G>A, XM_011518718.4:c.877G>A, XM_011518718.3:c.877G>A, XM_011518718.2:c.877G>A, XM_011518718.1:c.877G>A, XM_017014751.3:c.877G>A, XM_017014751.2:c.877G>A, XM_017014751.1:c.877G>A, XM_017014753.3:c.877G>A, XM_017014753.2:c.877G>A, XM_017014753.1:c.877G>A, XM_005252004.3:c.877G>A, XM_005252004.2:c.877G>A, XM_005252004.1:c.877G>A, XM_017014760.3:c.877G>A, XM_017014760.2:c.877G>A, XM_017014760.1:c.877G>A, XM_017014752.2:c.877G>A, XM_017014752.1:c.877G>A, XM_047423432.1:c.877G>A, XM_047423433.1:c.877G>A, XM_017014755.1:c.877G>A, NM_001381928.1:c.877G>A, NP_006171.2:p.Glu293Lys, NP_001018076.1:p.Glu293Lys, NP_001018074.1:p.Glu293Lys, NP_001007098.1:p.Glu293Lys, NP_001018075.1:p.Glu293Lys, NP_001356461.1:p.Glu293Lys, NP_001356462.1:p.Glu293Lys, NP_001356463.1:p.Glu293Lys, NP_001356466.1:p.Glu293Lys, NP_001356467.1:p.Glu293Lys, NP_001356465.1:p.Glu137Lys, NP_001356464.1:p.Glu137Lys, NP_001356473.1:p.Glu293Lys, NP_001356472.1:p.Glu293Lys, NP_001356470.1:p.Glu293Lys, NP_001356471.1:p.Glu293Lys, NP_001356474.1:p.Glu293Lys, NP_001356468.1:p.Glu293Lys, NP_001356477.1:p.Glu293Lys, NP_001356476.1:p.Glu293Lys, NP_001356469.1:p.Glu293Lys, NP_001356478.1:p.Glu293Lys, NP_001356481.1:p.Glu137Lys, NP_001356480.1:p.Glu137Lys, NP_001356479.1:p.Glu137Lys, XP_005252058.1:p.Glu293Lys, XP_005252060.1:p.Glu293Lys, XP_011517020.1:p.Glu293Lys, XP_016870240.1:p.Glu293Lys, XP_016870242.1:p.Glu293Lys, XP_005252061.1:p.Glu293Lys, XP_016870249.1:p.Glu293Lys, XP_016870241.1:p.Glu293Lys, XP_047279388.1:p.Glu293Lys, XP_047279389.1:p.Glu293Lys, XP_016870244.1:p.Glu293Lys

Select item 145441806016.

rs1454418060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:84670817 (GRCh38)
9:87285732 (GRCh37)
Canonical SPDI:: NC_000009.12:84670816:G:A
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.84670817G>A, NC_000009.11:g.87285732G>A, NG_012201.2:g.7267G>A, NM_006180.6:c.69G>A, NM_006180.5:c.69G>A, NM_006180.4:c.69G>A, NM_006180.3:c.69G>A, NM_001018066.3:c.69G>A, NM_001018066.2:c.69G>A, NM_001018064.3:c.69G>A, NM_001018064.2:c.69G>A, NM_001018064.1:c.69G>A, NM_001007097.3:c.69G>A, NM_001007097.2:c.69G>A, NM_001007097.1:c.69G>A, NM_001018065.2:c.69G>A, NM_001291937.2:c.69G>A, NM_001291937.1:c.69G>A, NM_001369532.1:c.69G>A, NM_001369533.1:c.69G>A, NM_001369534.1:c.69G>A, NM_001369537.1:c.69G>A, NM_001369538.1:c.69G>A, NM_001369544.1:c.69G>A, NM_001369543.1:c.69G>A, NM_001369541.1:c.69G>A, NM_001369542.1:c.69G>A, NM_001369545.1:c.69G>A, NM_001369539.1:c.69G>A, NM_001369548.1:c.69G>A, NM_001369547.1:c.69G>A, NM_001369540.1:c.69G>A, NM_001369546.1:c.69G>A, NM_001369549.1:c.69G>A, XM_005252001.4:c.69G>A, XM_005252001.3:c.69G>A, XM_005252001.2:c.69G>A, XM_005252001.1:c.69G>A, XM_005252003.4:c.69G>A, XM_005252003.3:c.69G>A, XM_005252003.2:c.69G>A, XM_005252003.1:c.69G>A, XM_011518718.4:c.69G>A, XM_011518718.3:c.69G>A, XM_011518718.2:c.69G>A, XM_011518718.1:c.69G>A, XM_017014751.3:c.69G>A, XM_017014751.2:c.69G>A, XM_017014751.1:c.69G>A, XM_017014753.3:c.69G>A, XM_017014753.2:c.69G>A, XM_017014753.1:c.69G>A, XM_005252004.3:c.69G>A, XM_005252004.2:c.69G>A, XM_005252004.1:c.69G>A, XM_017014760.3:c.69G>A, XM_017014760.2:c.69G>A, XM_017014760.1:c.69G>A, XM_017014752.2:c.69G>A, XM_017014752.1:c.69G>A, XM_047423432.1:c.69G>A, XM_047423433.1:c.69G>A, XM_017014755.1:c.69G>A, NM_001381928.1:c.69G>A

Select item 145441242317.

rs1454412423 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:84670869 (GRCh38)
9:87285784 (GRCh37)
Canonical SPDI:: NC_000009.12:84670868:T:A
Gene:: NTRK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.84670869T>A, NC_000009.11:g.87285784T>A, NG_012201.2:g.7319T>A, NM_006180.6:c.121T>A, NM_006180.5:c.121T>A, NM_006180.4:c.121T>A, NM_006180.3:c.121T>A, NM_001018066.3:c.121T>A, NM_001018066.2:c.121T>A, NM_001018064.3:c.121T>A, NM_001018064.2:c.121T>A, NM_001018064.1:c.121T>A, NM_001007097.3:c.121T>A, NM_001007097.2:c.121T>A, NM_001007097.1:c.121T>A, NM_001018065.2:c.121T>A, NM_001291937.2:c.121T>A, NM_001291937.1:c.121T>A, NM_001369532.1:c.121T>A, NM_001369533.1:c.121T>A, NM_001369534.1:c.121T>A, NM_001369537.1:c.121T>A, NM_001369538.1:c.121T>A, NM_001369544.1:c.121T>A, NM_001369543.1:c.121T>A, NM_001369541.1:c.121T>A, NM_001369542.1:c.121T>A, NM_001369545.1:c.121T>A, NM_001369539.1:c.121T>A, NM_001369548.1:c.121T>A, NM_001369547.1:c.121T>A, NM_001369540.1:c.121T>A, NM_001369546.1:c.121T>A, NM_001369549.1:c.121T>A, XM_005252001.4:c.121T>A, XM_005252001.3:c.121T>A, XM_005252001.2:c.121T>A, XM_005252001.1:c.121T>A, XM_005252003.4:c.121T>A, XM_005252003.3:c.121T>A, XM_005252003.2:c.121T>A, XM_005252003.1:c.121T>A, XM_011518718.4:c.121T>A, XM_011518718.3:c.121T>A, XM_011518718.2:c.121T>A, XM_011518718.1:c.121T>A, XM_017014751.3:c.121T>A, XM_017014751.2:c.121T>A, XM_017014751.1:c.121T>A, XM_017014753.3:c.121T>A, XM_017014753.2:c.121T>A, XM_017014753.1:c.121T>A, XM_005252004.3:c.121T>A, XM_005252004.2:c.121T>A, XM_005252004.1:c.121T>A, XM_017014760.3:c.121T>A, XM_017014760.2:c.121T>A, XM_017014760.1:c.121T>A, XM_017014752.2:c.121T>A, XM_017014752.1:c.121T>A, XM_047423432.1:c.121T>A, XM_047423433.1:c.121T>A, XM_017014755.1:c.121T>A, NM_001381928.1:c.121T>A, NP_006171.2:p.Ser41Thr, NP_001018076.1:p.Ser41Thr, NP_001018074.1:p.Ser41Thr, NP_001007098.1:p.Ser41Thr, NP_001018075.1:p.Ser41Thr, NP_001278866.1:p.Ser41Thr, NP_001356461.1:p.Ser41Thr, NP_001356462.1:p.Ser41Thr, NP_001356463.1:p.Ser41Thr, NP_001356466.1:p.Ser41Thr, NP_001356467.1:p.Ser41Thr, NP_001356473.1:p.Ser41Thr, NP_001356472.1:p.Ser41Thr, NP_001356470.1:p.Ser41Thr, NP_001356471.1:p.Ser41Thr, NP_001356474.1:p.Ser41Thr, NP_001356468.1:p.Ser41Thr, NP_001356477.1:p.Ser41Thr, NP_001356476.1:p.Ser41Thr, NP_001356469.1:p.Ser41Thr, NP_001356475.1:p.Ser41Thr, NP_001356478.1:p.Ser41Thr, XP_005252058.1:p.Ser41Thr, XP_005252060.1:p.Ser41Thr, XP_011517020.1:p.Ser41Thr, XP_016870240.1:p.Ser41Thr, XP_016870242.1:p.Ser41Thr, XP_005252061.1:p.Ser41Thr, XP_016870249.1:p.Ser41Thr, XP_016870241.1:p.Ser41Thr, XP_047279388.1:p.Ser41Thr, XP_047279389.1:p.Ser41Thr, XP_016870244.1:p.Ser41Thr

Select item 145135611618.

rs1451356116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:84727887 (GRCh38)
9:87342802 (GRCh37)
Canonical SPDI:: NC_000009.12:84727886:G:A
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.84727887G>A, NC_000009.11:g.87342802G>A, NG_012201.2:g.64337G>A, NM_006180.6:c.1087G>A, NM_006180.5:c.1087G>A, NM_006180.4:c.1087G>A, NM_006180.3:c.1087G>A, NM_001018066.3:c.1087G>A, NM_001018066.2:c.1087G>A, NM_001018064.3:c.1087G>A, NM_001018064.2:c.1087G>A, NM_001018064.1:c.1087G>A, NM_001007097.3:c.1087G>A, NM_001007097.2:c.1087G>A, NM_001007097.1:c.1087G>A, NM_001018065.2:c.1087G>A, NM_001291937.2:c.1048G>A, NM_001291937.1:c.1048G>A, NM_001369532.1:c.1087G>A, NM_001369533.1:c.1087G>A, NM_001369534.1:c.1087G>A, NM_001369537.1:c.1087G>A, NM_001369538.1:c.1087G>A, NM_001369536.1:c.619G>A, NM_001369535.1:c.619G>A, NM_001369544.1:c.1087G>A, NM_001369543.1:c.1087G>A, NM_001369541.1:c.1087G>A, NM_001369542.1:c.1087G>A, NM_001369545.1:c.1087G>A, NM_001369539.1:c.1087G>A, NM_001369548.1:c.1087G>A, NM_001369547.1:c.1087G>A, NM_001369540.1:c.1087G>A, NM_001369546.1:c.1048G>A, NM_001369549.1:c.1087G>A, NM_001369552.1:c.619G>A, NM_001369551.1:c.619G>A, NM_001369550.1:c.619G>A, XM_005252001.4:c.1087G>A, XM_005252001.3:c.1087G>A, XM_005252001.2:c.1087G>A, XM_005252001.1:c.1087G>A, XM_005252003.4:c.1087G>A, XM_005252003.3:c.1087G>A, XM_005252003.2:c.1087G>A, XM_005252003.1:c.1087G>A, XM_011518718.4:c.1087G>A, XM_011518718.3:c.1087G>A, XM_011518718.2:c.1087G>A, XM_011518718.1:c.1087G>A, XM_017014751.3:c.1087G>A, XM_017014751.2:c.1087G>A, XM_017014751.1:c.1087G>A, XM_017014753.3:c.1087G>A, XM_017014753.2:c.1087G>A, XM_017014753.1:c.1087G>A, XM_005252004.3:c.1087G>A, XM_005252004.2:c.1087G>A, XM_005252004.1:c.1087G>A, XM_017014760.3:c.1087G>A, XM_017014760.2:c.1087G>A, XM_017014760.1:c.1087G>A, XM_017014752.2:c.1087G>A, XM_017014752.1:c.1087G>A, XM_047423432.1:c.1087G>A, XM_047423433.1:c.1087G>A, XM_017014755.1:c.1087G>A, NM_001381928.1:c.1087G>A, NP_006171.2:p.Ala363Thr, NP_001018076.1:p.Ala363Thr, NP_001018074.1:p.Ala363Thr, NP_001007098.1:p.Ala363Thr, NP_001018075.1:p.Ala363Thr, NP_001278866.1:p.Ala350Thr, NP_001356461.1:p.Ala363Thr, NP_001356462.1:p.Ala363Thr, NP_001356463.1:p.Ala363Thr, NP_001356466.1:p.Ala363Thr, NP_001356467.1:p.Ala363Thr, NP_001356465.1:p.Ala207Thr, NP_001356464.1:p.Ala207Thr, NP_001356473.1:p.Ala363Thr, NP_001356472.1:p.Ala363Thr, NP_001356470.1:p.Ala363Thr, NP_001356471.1:p.Ala363Thr, NP_001356474.1:p.Ala363Thr, NP_001356468.1:p.Ala363Thr, NP_001356477.1:p.Ala363Thr, NP_001356476.1:p.Ala363Thr, NP_001356469.1:p.Ala363Thr, NP_001356475.1:p.Ala350Thr, NP_001356478.1:p.Ala363Thr, NP_001356481.1:p.Ala207Thr, NP_001356480.1:p.Ala207Thr, NP_001356479.1:p.Ala207Thr, XP_005252058.1:p.Ala363Thr, XP_005252060.1:p.Ala363Thr, XP_011517020.1:p.Ala363Thr, XP_016870240.1:p.Ala363Thr, XP_016870242.1:p.Ala363Thr, XP_005252061.1:p.Ala363Thr, XP_016870249.1:p.Ala363Thr, XP_016870241.1:p.Ala363Thr, XP_047279388.1:p.Ala363Thr, XP_047279389.1:p.Ala363Thr, XP_016870244.1:p.Ala363Thr

Select item 144930980719.

rs1449309807 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:84741911 (GRCh38)
9:87356826 (GRCh37)
Canonical SPDI:: NC_000009.12:84741910:T:C
Gene:: NTRK2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.84741911T>C, NC_000009.11:g.87356826T>C, NG_012201.2:g.78361T>C, NM_006180.6:c.1179T>C, NM_006180.5:c.1179T>C, NM_006180.4:c.1179T>C, NM_006180.3:c.1179T>C, NM_001018066.3:c.1179T>C, NM_001018066.2:c.1179T>C, NM_001018064.3:c.1179T>C, NM_001018064.2:c.1179T>C, NM_001018064.1:c.1179T>C, NM_001007097.3:c.1179T>C, NM_001007097.2:c.1179T>C, NM_001007097.1:c.1179T>C, NM_001018065.2:c.1179T>C, NM_001291937.2:c.1140T>C, NM_001291937.1:c.1140T>C, NM_001369532.1:c.1179T>C, NM_001369533.1:c.1179T>C, NM_001369537.1:c.1179T>C, NM_001369538.1:c.1179T>C, NM_001369536.1:c.711T>C, NM_001369535.1:c.711T>C, NM_001369544.1:c.1179T>C, NM_001369543.1:c.1179T>C, NM_001369541.1:c.1179T>C, NM_001369542.1:c.1179T>C, NM_001369545.1:c.1179T>C, NM_001369539.1:c.1179T>C, NM_001369548.1:c.1179T>C, NM_001369547.1:c.1179T>C, NM_001369540.1:c.1179T>C, NM_001369546.1:c.1140T>C, NM_001369549.1:c.1179T>C, NM_001369552.1:c.711T>C, NM_001369551.1:c.711T>C, NM_001369550.1:c.711T>C, XM_005252001.4:c.1179T>C, XM_005252001.3:c.1179T>C, XM_005252001.2:c.1179T>C, XM_005252001.1:c.1179T>C, XM_005252003.4:c.1179T>C, XM_005252003.3:c.1179T>C, XM_005252003.2:c.1179T>C, XM_005252003.1:c.1179T>C, XM_011518718.4:c.1179T>C, XM_011518718.3:c.1179T>C, XM_011518718.2:c.1179T>C, XM_011518718.1:c.1179T>C, XM_017014751.3:c.1179T>C, XM_017014751.2:c.1179T>C, XM_017014751.1:c.1179T>C, XM_017014753.3:c.1179T>C, XM_017014753.2:c.1179T>C, XM_017014753.1:c.1179T>C, XM_005252004.3:c.1179T>C, XM_005252004.2:c.1179T>C, XM_005252004.1:c.1179T>C, XM_017014760.3:c.1179T>C, XM_017014760.2:c.1179T>C, XM_017014760.1:c.1179T>C, XM_017014752.2:c.1179T>C, XM_017014752.1:c.1179T>C, XM_047423432.1:c.1179T>C, XM_047423433.1:c.1179T>C, XM_017014755.1:c.1179T>C, NM_001381928.1:c.1179T>C

Select item 144713516920.

rs1447135169 [Homo sapiens]

Variant type:: DEL
Alleles:: AACA>- [Show Flanks]
Chromosome:: 9:84670947 (GRCh38)
9:87285862 (GRCh37)
Canonical SPDI:: NC_000009.12:84670946:AACA:
Gene:: NTRK2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0013/6 (ALFA)
-=0.0013/6 (Estonian)
HGVS:: NC_000009.12:g.84670947_84670950del, NC_000009.11:g.87285862_87285865del, NG_012201.2:g.7397_7400del, NM_006180.6:c.199_202del, NM_006180.5:c.199_202del, NM_006180.4:c.199_202del, NM_006180.3:c.199_202del, NM_001018066.3:c.199_202del, NM_001018066.2:c.199_202del, NM_001018064.3:c.199_202del, NM_001018064.2:c.199_202del, NM_001018064.1:c.199_202del, NM_001007097.3:c.199_202del, NM_001007097.2:c.199_202del, NM_001007097.1:c.199_202del, NM_001018065.2:c.199_202del, NM_001291937.2:c.199_202del, NM_001291937.1:c.199_202del, NM_001369532.1:c.199_202del, NM_001369533.1:c.199_202del, NM_001369534.1:c.199_202del, NM_001369537.1:c.199_202del, NM_001369538.1:c.199_202del, NM_001369544.1:c.199_202del, NM_001369543.1:c.199_202del, NM_001369541.1:c.199_202del, NM_001369542.1:c.199_202del, NM_001369545.1:c.199_202del, NM_001369539.1:c.199_202del, NM_001369548.1:c.199_202del, NM_001369547.1:c.199_202del, NM_001369540.1:c.199_202del, NM_001369546.1:c.199_202del, NM_001369549.1:c.199_202del, XM_005252001.4:c.199_202del, XM_005252001.3:c.199_202del, XM_005252001.2:c.199_202del, XM_005252001.1:c.199_202del, XM_005252003.4:c.199_202del, XM_005252003.3:c.199_202del, XM_005252003.2:c.199_202del, XM_005252003.1:c.199_202del, XM_011518718.4:c.199_202del, XM_011518718.3:c.199_202del, XM_011518718.2:c.199_202del, XM_011518718.1:c.199_202del, XM_017014751.3:c.199_202del, XM_017014751.2:c.199_202del, XM_017014751.1:c.199_202del, XM_017014753.3:c.199_202del, XM_017014753.2:c.199_202del, XM_017014753.1:c.199_202del, XM_005252004.3:c.199_202del, XM_005252004.2:c.199_202del, XM_005252004.1:c.199_202del, XM_017014760.3:c.199_202del, XM_017014760.2:c.199_202del, XM_017014760.1:c.199_202del, XM_017014752.2:c.199_202del, XM_017014752.1:c.199_202del, XM_047423432.1:c.199_202del, XM_047423433.1:c.199_202del, XM_017014755.1:c.199_202del, NM_001381928.1:c.199_202del, NP_006171.2:p.Asn67fs, NP_001018076.1:p.Asn67fs, NP_001018074.1:p.Asn67fs, NP_001007098.1:p.Asn67fs, NP_001018075.1:p.Asn67fs, NP_001278866.1:p.Asn67fs, NP_001356461.1:p.Asn67fs, NP_001356462.1:p.Asn67fs, NP_001356463.1:p.Asn67fs, NP_001356466.1:p.Asn67fs, NP_001356467.1:p.Asn67fs, NP_001356473.1:p.Asn67fs, NP_001356472.1:p.Asn67fs, NP_001356470.1:p.Asn67fs, NP_001356471.1:p.Asn67fs, NP_001356474.1:p.Asn67fs, NP_001356468.1:p.Asn67fs, NP_001356477.1:p.Asn67fs, NP_001356476.1:p.Asn67fs, NP_001356469.1:p.Asn67fs, NP_001356475.1:p.Asn67fs, NP_001356478.1:p.Asn67fs, XP_005252058.1:p.Asn67fs, XP_005252060.1:p.Asn67fs, XP_011517020.1:p.Asn67fs, XP_016870240.1:p.Asn67fs, XP_016870242.1:p.Asn67fs, XP_005252061.1:p.Asn67fs, XP_016870249.1:p.Asn67fs, XP_016870241.1:p.Asn67fs, XP_047279388.1:p.Asn67fs, XP_047279389.1:p.Asn67fs, XP_016870244.1:p.Asn67fs

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