SNP Links for Protein (Select 1047600467) - SNP

Links from Protein

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Select item 14884282731.

rs1488428273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:55755609 (GRCh38)
6:55620407 (GRCh37)
Canonical SPDI:: NC_000006.12:55755608:A:G
Gene:: BMP5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.55755609A>G, NC_000006.11:g.55620407A>G, NM_021073.4:c.1289T>C, NM_021073.3:c.1289T>C, NM_021073.2:c.1289T>C, NM_001329754.2:c.1178T>C, NM_001329754.1:c.1178T>C, NM_001329756.2:c.*54T>C, NM_001329756.1:c.*54T>C, NP_066551.1:p.Leu430Pro, NP_001316683.1:p.Leu393Pro

Select item 14851956792.

rs1485195679 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:55819839 (GRCh38)
6:55684637 (GRCh37)
Canonical SPDI:: NC_000006.12:55819838:C:G
Gene:: BMP5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.55819839C>G, NC_000006.11:g.55684637C>G, XM_011514817.4:c.499G>C, XM_011514817.3:c.499G>C, XM_011514817.2:c.499G>C, XM_011514817.1:c.499G>C, NM_021073.4:c.499G>C, NM_021073.3:c.499G>C, NM_021073.2:c.499G>C, NM_001329754.2:c.499G>C, NM_001329754.1:c.499G>C, NM_001329756.2:c.499G>C, NM_001329756.1:c.499G>C, XM_024446524.2:c.499G>C, XM_024446524.1:c.499G>C, XP_011513119.1:p.Asp167His, NP_066551.1:p.Asp167His, NP_001316683.1:p.Asp167His, NP_001316685.1:p.Asp167His, XP_024302292.1:p.Asp167His

Select item 14794901923.

rs1479490192 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:55874650 (GRCh38)
6:55739448 (GRCh37)
Canonical SPDI:: NC_000006.12:55874649:T:C
Gene:: BMP5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55874650T>C, NC_000006.11:g.55739448T>C, XM_011514817.4:c.216A>G, XM_011514817.3:c.216A>G, XM_011514817.2:c.216A>G, XM_011514817.1:c.216A>G, NM_021073.4:c.216A>G, NM_021073.3:c.216A>G, NM_021073.2:c.216A>G, NM_001329754.2:c.216A>G, NM_001329754.1:c.216A>G, NM_001329756.2:c.216A>G, NM_001329756.1:c.216A>G, XM_024446524.2:c.216A>G, XM_024446524.1:c.216A>G

Select item 14781926784.

rs1478192678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:55874677 (GRCh38)
6:55739475 (GRCh37)
Canonical SPDI:: NC_000006.12:55874676:G:A
Gene:: BMP5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55874677G>A, NC_000006.11:g.55739475G>A, XM_011514817.4:c.189C>T, XM_011514817.3:c.189C>T, XM_011514817.2:c.189C>T, XM_011514817.1:c.189C>T, NM_021073.4:c.189C>T, NM_021073.3:c.189C>T, NM_021073.2:c.189C>T, NM_001329754.2:c.189C>T, NM_001329754.1:c.189C>T, NM_001329756.2:c.189C>T, NM_001329756.1:c.189C>T, XM_024446524.2:c.189C>T, XM_024446524.1:c.189C>T

Select item 14771645365.

rs1477164536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:55774133 (GRCh38)
6:55638931 (GRCh37)
Canonical SPDI:: NC_000006.12:55774132:C:T
Gene:: BMP5 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.55774133C>T, NC_000006.11:g.55638931C>T, XM_011514817.4:c.943G>A, XM_011514817.3:c.943G>A, XM_011514817.2:c.943G>A, XM_011514817.1:c.943G>A, NM_021073.4:c.943G>A, NM_021073.3:c.943G>A, NM_021073.2:c.943G>A, NM_001329754.2:c.943G>A, NM_001329754.1:c.943G>A, NM_001329756.2:c.943G>A, NM_001329756.1:c.943G>A, XP_011513119.1:p.Val315Met, NP_066551.1:p.Val315Met, NP_001316683.1:p.Val315Met, NP_001316685.1:p.Val315Met

Select item 14729007226.

rs1472900722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:55874450 (GRCh38)
6:55739248 (GRCh37)
Canonical SPDI:: NC_000006.12:55874449:C:T
Gene:: BMP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.55874450C>T, NC_000006.11:g.55739248C>T, XM_011514817.4:c.416G>A, XM_011514817.3:c.416G>A, XM_011514817.2:c.416G>A, XM_011514817.1:c.416G>A, NM_021073.4:c.416G>A, NM_021073.3:c.416G>A, NM_021073.2:c.416G>A, NM_001329754.2:c.416G>A, NM_001329754.1:c.416G>A, NM_001329756.2:c.416G>A, NM_001329756.1:c.416G>A, XM_024446524.2:c.416G>A, XM_024446524.1:c.416G>A, XP_011513119.1:p.Ser139Asn, NP_066551.1:p.Ser139Asn, NP_001316683.1:p.Ser139Asn, NP_001316685.1:p.Ser139Asn, XP_024302292.1:p.Ser139Asn

Select item 14702924637.

rs1470292463 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:55874520 (GRCh38)
6:55739318 (GRCh37)
Canonical SPDI:: NC_000006.12:55874519:A:G
Gene:: BMP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.55874520A>G, NC_000006.11:g.55739318A>G, XM_011514817.4:c.346T>C, XM_011514817.3:c.346T>C, XM_011514817.2:c.346T>C, XM_011514817.1:c.346T>C, NM_021073.4:c.346T>C, NM_021073.3:c.346T>C, NM_021073.2:c.346T>C, NM_001329754.2:c.346T>C, NM_001329754.1:c.346T>C, NM_001329756.2:c.346T>C, NM_001329756.1:c.346T>C, XM_024446524.2:c.346T>C, XM_024446524.1:c.346T>C, XP_011513119.1:p.Tyr116His, NP_066551.1:p.Tyr116His, NP_001316683.1:p.Tyr116His, NP_001316685.1:p.Tyr116His, XP_024302292.1:p.Tyr116His

Select item 14670590768.

rs1467059076 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:55874651 (GRCh38)
6:55739449 (GRCh37)
Canonical SPDI:: NC_000006.12:55874650:T:C
Gene:: BMP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.55874651T>C, NC_000006.11:g.55739449T>C, XM_011514817.4:c.215A>G, XM_011514817.3:c.215A>G, XM_011514817.2:c.215A>G, XM_011514817.1:c.215A>G, NM_021073.4:c.215A>G, NM_021073.3:c.215A>G, NM_021073.2:c.215A>G, NM_001329754.2:c.215A>G, NM_001329754.1:c.215A>G, NM_001329756.2:c.215A>G, NM_001329756.1:c.215A>G, XM_024446524.2:c.215A>G, XM_024446524.1:c.215A>G, XP_011513119.1:p.Lys72Arg, NP_066551.1:p.Lys72Arg, NP_001316683.1:p.Lys72Arg, NP_001316685.1:p.Lys72Arg, XP_024302292.1:p.Lys72Arg

Select item 14662164749.

rs1466216474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:55794378 (GRCh38)
6:55659176 (GRCh37)
Canonical SPDI:: NC_000006.12:55794377:C:A
Gene:: BMP5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55794378C>A, NC_000006.11:g.55659176C>A, XM_011514817.4:c.733G>T, XM_011514817.3:c.733G>T, XM_011514817.2:c.733G>T, XM_011514817.1:c.733G>T, NM_021073.4:c.733G>T, NM_021073.3:c.733G>T, NM_021073.2:c.733G>T, NM_001329754.2:c.733G>T, NM_001329754.1:c.733G>T, NM_001329756.2:c.733G>T, NM_001329756.1:c.733G>T, XP_011513119.1:p.Val245Leu, NP_066551.1:p.Val245Leu, NP_001316683.1:p.Val245Leu, NP_001316685.1:p.Val245Leu

Select item 146074949910.

rs1460749499 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 6:55774231 (GRCh38)
6:55639029 (GRCh37)
Canonical SPDI:: NC_000006.12:55774230:TT:T
Gene:: BMP5 (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.55774232del, NC_000006.11:g.55639030del, XM_011514817.4:c.845del, XM_011514817.3:c.845del, XM_011514817.2:c.845del, XM_011514817.1:c.845del, NM_021073.4:c.845del, NM_021073.3:c.845del, NM_021073.2:c.845del, NM_001329754.2:c.845del, NM_001329754.1:c.845del, NM_001329756.2:c.845del, NM_001329756.1:c.845del, XP_011513119.1:p.Asn282fs, NP_066551.1:p.Asn282fs, NP_001316683.1:p.Asn282fs, NP_001316685.1:p.Asn282fs

Select item 145905010811.

rs1459050108 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 6:55755663 (GRCh38)
6:55620461 (GRCh37)
Canonical SPDI:: NC_000006.12:55755662:T:A,NC_000006.12:55755662:T:G
Gene:: BMP5 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,terminator_codon_variant,stop_lost
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.55755663T>A, NC_000006.12:g.55755663T>G, NC_000006.11:g.55620461T>A, NC_000006.11:g.55620461T>G, NM_021073.4:c.1235A>T, NM_021073.4:c.1235A>C, NM_021073.3:c.1235A>T, NM_021073.3:c.1235A>C, NM_021073.2:c.1235A>T, NM_021073.2:c.1235A>C, NM_001329754.2:c.1124A>T, NM_001329754.2:c.1124A>C, NM_001329754.1:c.1124A>T, NM_001329754.1:c.1124A>C, NM_001329756.2:c.1047A>T, NM_001329756.2:c.1047A>C, NM_001329756.1:c.1047A>T, NM_001329756.1:c.1047A>C, NP_066551.1:p.Asp412Val, NP_066551.1:p.Asp412Ala, NP_001316683.1:p.Asp375Val, NP_001316683.1:p.Asp375Ala, NP_001316685.1:p.Ter349Cys, NP_001316685.1:p.Ter349Cys

Select item 145873140812.

rs1458731408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:55794319 (GRCh38)
6:55659117 (GRCh37)
Canonical SPDI:: NC_000006.12:55794318:C:T
Gene:: BMP5 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.55794319C>T, NC_000006.11:g.55659117C>T, XM_011514817.4:c.792G>A, XM_011514817.3:c.792G>A, XM_011514817.2:c.792G>A, XM_011514817.1:c.792G>A, NM_021073.4:c.792G>A, NM_021073.3:c.792G>A, NM_021073.2:c.792G>A, NM_001329754.2:c.792G>A, NM_001329754.1:c.792G>A, NM_001329756.2:c.792G>A, NM_001329756.1:c.792G>A

Select item 145859356313.

rs1458593563 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:55874691 (GRCh38)
6:55739489 (GRCh37)
Canonical SPDI:: NC_000006.12:55874690:A:G
Gene:: BMP5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.55874691A>G, NC_000006.11:g.55739489A>G, XM_011514817.4:c.175T>C, XM_011514817.3:c.175T>C, XM_011514817.2:c.175T>C, XM_011514817.1:c.175T>C, NM_021073.4:c.175T>C, NM_021073.3:c.175T>C, NM_021073.2:c.175T>C, NM_001329754.2:c.175T>C, NM_001329754.1:c.175T>C, NM_001329756.2:c.175T>C, NM_001329756.1:c.175T>C, XM_024446524.2:c.175T>C, XM_024446524.1:c.175T>C

Select item 145435572814.

rs1454355728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:55794288 (GRCh38)
6:55659086 (GRCh37)
Canonical SPDI:: NC_000006.12:55794287:T:C
Gene:: BMP5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.55794288T>C, NC_000006.11:g.55659086T>C, XM_011514817.4:c.823A>G, XM_011514817.3:c.823A>G, XM_011514817.2:c.823A>G, XM_011514817.1:c.823A>G, NM_021073.4:c.823A>G, NM_021073.3:c.823A>G, NM_021073.2:c.823A>G, NM_001329754.2:c.823A>G, NM_001329754.1:c.823A>G, NM_001329756.2:c.823A>G, NM_001329756.1:c.823A>G, XP_011513119.1:p.Thr275Ala, NP_066551.1:p.Thr275Ala, NP_001316683.1:p.Thr275Ala, NP_001316685.1:p.Thr275Ala

Select item 145238345915.

rs1452383459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:55774101 (GRCh38)
6:55638899 (GRCh37)
Canonical SPDI:: NC_000006.12:55774100:G:C
Gene:: BMP5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000048/12 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55774101G>C, NC_000006.11:g.55638899G>C, XM_011514817.4:c.975C>G, XM_011514817.3:c.975C>G, XM_011514817.2:c.975C>G, XM_011514817.1:c.975C>G, NM_021073.4:c.975C>G, NM_021073.3:c.975C>G, NM_021073.2:c.975C>G, NM_001329754.2:c.975C>G, NM_001329754.1:c.975C>G, NM_001329756.2:c.975C>G, NM_001329756.1:c.975C>G, XP_011513119.1:p.Asn325Lys, NP_066551.1:p.Asn325Lys, NP_001316683.1:p.Asn325Lys, NP_001316685.1:p.Asn325Lys

Select item 145210996916.

rs1452109969 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: 6:55774184 (GRCh38)
6:55638982 (GRCh37)
Canonical SPDI:: NC_000006.12:55774180:GTTGTT:GTT
Gene:: BMP5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTGTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.55774181GTT[1], NC_000006.11:g.55638979GTT[1], XM_011514817.4:c.890AAC[1], XM_011514817.3:c.890AAC[1], XM_011514817.2:c.890AAC[1], XM_011514817.1:c.890AAC[1], NM_021073.4:c.890AAC[1], NM_021073.3:c.890AAC[1], NM_021073.2:c.890AAC[1], NM_001329754.2:c.890AAC[1], NM_001329754.1:c.890AAC[1], NM_001329756.2:c.890AAC[1], NM_001329756.1:c.890AAC[1], XP_011513119.1:p.Gln298del, NP_066551.1:p.Gln298del, NP_001316683.1:p.Gln298del, NP_001316685.1:p.Gln298del

Select item 144995390417.

rs1449953904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:55819781 (GRCh38)
6:55684579 (GRCh37)
Canonical SPDI:: NC_000006.12:55819780:T:C
Gene:: BMP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55819781T>C, NC_000006.11:g.55684579T>C, XM_011514817.4:c.557A>G, XM_011514817.3:c.557A>G, XM_011514817.2:c.557A>G, XM_011514817.1:c.557A>G, NM_021073.4:c.557A>G, NM_021073.3:c.557A>G, NM_021073.2:c.557A>G, NM_001329754.2:c.557A>G, NM_001329754.1:c.557A>G, NM_001329756.2:c.557A>G, NM_001329756.1:c.557A>G, XM_024446524.2:c.557A>G, XM_024446524.1:c.557A>G, XP_011513119.1:p.Gln186Arg, NP_066551.1:p.Gln186Arg, NP_001316683.1:p.Gln186Arg, NP_001316685.1:p.Gln186Arg, XP_024302292.1:p.Gln186Arg

Select item 144774006118.

rs1447740061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:55794283 (GRCh38)
6:55659081 (GRCh37)
Canonical SPDI:: NC_000006.12:55794282:C:T
Gene:: BMP5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55794283C>T, NC_000006.11:g.55659081C>T, XM_011514817.4:c.828G>A, XM_011514817.3:c.828G>A, XM_011514817.2:c.828G>A, XM_011514817.1:c.828G>A, NM_021073.4:c.828G>A, NM_021073.3:c.828G>A, NM_021073.2:c.828G>A, NM_001329754.2:c.828G>A, NM_001329754.1:c.828G>A, NM_001329756.2:c.828G>A, NM_001329756.1:c.828G>A

Select item 144760873019.

rs1447608730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:55774198 (GRCh38)
6:55638996 (GRCh37)
Canonical SPDI:: NC_000006.12:55774197:C:G
Gene:: BMP5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.55774198C>G, NC_000006.11:g.55638996C>G, XM_011514817.4:c.878G>C, XM_011514817.3:c.878G>C, XM_011514817.2:c.878G>C, XM_011514817.1:c.878G>C, NM_021073.4:c.878G>C, NM_021073.3:c.878G>C, NM_021073.2:c.878G>C, NM_001329754.2:c.878G>C, NM_001329754.1:c.878G>C, NM_001329756.2:c.878G>C, NM_001329756.1:c.878G>C, XP_011513119.1:p.Gly293Ala, NP_066551.1:p.Gly293Ala, NP_001316683.1:p.Gly293Ala, NP_001316685.1:p.Gly293Ala

Select item 144454821820.

rs1444548218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:55874711 (GRCh38)
6:55739509 (GRCh37)
Canonical SPDI:: NC_000006.12:55874710:T:C
Gene:: BMP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.55874711T>C, NC_000006.11:g.55739509T>C, XM_011514817.4:c.155A>G, XM_011514817.3:c.155A>G, XM_011514817.2:c.155A>G, XM_011514817.1:c.155A>G, NM_021073.4:c.155A>G, NM_021073.3:c.155A>G, NM_021073.2:c.155A>G, NM_001329754.2:c.155A>G, NM_001329754.1:c.155A>G, NM_001329756.2:c.155A>G, NM_001329756.1:c.155A>G, XM_024446524.2:c.155A>G, XM_024446524.1:c.155A>G, XP_011513119.1:p.Gln52Arg, NP_066551.1:p.Gln52Arg, NP_001316683.1:p.Gln52Arg, NP_001316685.1:p.Gln52Arg, XP_024302292.1:p.Gln52Arg

dbSNP

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