SNP Links for Protein (Select 354459354) - SNP

Links from Protein

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Select item 14860490061.

rs1486049006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:68656379 (GRCh38)
12:69050159 (GRCh37)
Canonical SPDI:: NC_000012.12:68656378:A:G
Gene:: RAP1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000012.12:g.68656379A>G, NC_000012.11:g.69050159A>G, NM_015646.6:c.398A>G, NM_015646.5:c.398A>G, NM_001010942.3:c.398A>G, NM_001010942.2:c.398A>G, NM_001251921.2:c.341A>G, NM_001251921.1:c.341A>G, NM_001251917.2:c.272A>G, NM_001251917.1:c.272A>G, NM_001251918.2:c.272A>G, NM_001251918.1:c.272A>G, NM_001251922.2:c.257A>G, NM_001251922.1:c.257A>G, NP_056461.1:p.Asn133Ser, NP_001010942.1:p.Asn133Ser, NP_001238850.1:p.Asn114Ser, NP_001238846.1:p.Asn91Ser, NP_001238847.1:p.Asn91Ser, NP_001238851.1:p.Asn86Ser

Select item 14845572852.

rs1484557285 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:68656448 (GRCh38)
12:69050228 (GRCh37)
Canonical SPDI:: NC_000012.12:68656447:A:T
Gene:: RAP1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.68656448A>T, NC_000012.11:g.69050228A>T, NM_015646.6:c.467A>T, NM_015646.5:c.467A>T, NM_001010942.3:c.467A>T, NM_001010942.2:c.467A>T, NM_001251921.2:c.410A>T, NM_001251921.1:c.410A>T, NM_001251917.2:c.341A>T, NM_001251917.1:c.341A>T, NM_001251918.2:c.341A>T, NM_001251918.1:c.341A>T, NM_001251922.2:c.326A>T, NM_001251922.1:c.326A>T, NP_056461.1:p.Glu156Val, NP_001010942.1:p.Glu156Val, NP_001238850.1:p.Glu137Val, NP_001238846.1:p.Glu114Val, NP_001238847.1:p.Glu114Val, NP_001238851.1:p.Glu109Val

Select item 14782982143.

rs1478298214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:68656342 (GRCh38)
12:69050122 (GRCh37)
Canonical SPDI:: NC_000012.12:68656341:G:T
Gene:: RAP1B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.68656342G>T, NC_000012.11:g.69050122G>T, NM_015646.6:c.361G>T, NM_015646.5:c.361G>T, NM_001010942.3:c.361G>T, NM_001010942.2:c.361G>T, NM_001251921.2:c.304G>T, NM_001251921.1:c.304G>T, NM_001251917.2:c.235G>T, NM_001251917.1:c.235G>T, NM_001251918.2:c.235G>T, NM_001251918.1:c.235G>T, NM_001251922.2:c.220G>T, NM_001251922.1:c.220G>T, NP_056461.1:p.Glu121Ter, NP_001010942.1:p.Glu121Ter, NP_001238850.1:p.Glu102Ter, NP_001238846.1:p.Glu79Ter, NP_001238847.1:p.Glu79Ter, NP_001238851.1:p.Glu74Ter

Select item 14733899224.

rs1473389922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:68648766 (GRCh38)
12:69042546 (GRCh37)
Canonical SPDI:: NC_000012.12:68648765:T:G
Gene:: RAP1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000012.12:g.68648766T>G, NC_000012.11:g.69042546T>G, NM_015646.6:c.42T>G, NM_015646.5:c.42T>G, NM_001010942.3:c.42T>G, NM_001010942.2:c.42T>G, NM_001251921.2:c.42T>G, NM_001251921.1:c.42T>G, NM_001251917.2:c.42T>G, NM_001251917.1:c.42T>G, NM_001251918.2:c.42T>G, NM_001251918.1:c.42T>G, NM_001251922.2:c.42T>G, NM_001251922.1:c.42T>G

Select item 14731181625.

rs1473118162 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:68650429 (GRCh38)
12:69044209 (GRCh37)
Canonical SPDI:: NC_000012.12:68650428:A:G,NC_000012.12:68650428:A:T
Gene:: RAP1B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.68650429A>G, NC_000012.12:g.68650429A>T, NC_000012.11:g.69044209A>G, NC_000012.11:g.69044209A>T, NM_015646.6:c.87A>G, NM_015646.6:c.87A>T, NM_015646.5:c.87A>G, NM_015646.5:c.87A>T, NM_001010942.3:c.87A>G, NM_001010942.3:c.87A>T, NM_001010942.2:c.87A>G, NM_001010942.2:c.87A>T, NM_001251921.2:c.87A>G, NM_001251921.2:c.87A>T, NM_001251921.1:c.87A>G, NM_001251921.1:c.87A>T, NM_001251922.2:c.87A>G, NM_001251922.2:c.87A>T, NM_001251922.1:c.87A>G, NM_001251922.1:c.87A>T

Select item 14645076336.

rs1464507633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:68657178 (GRCh38)
12:69050958 (GRCh37)
Canonical SPDI:: NC_000012.12:68657177:G:T
Gene:: RAP1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68657178G>T, NC_000012.11:g.69050958G>T, NM_015646.6:c.546G>T, NM_015646.5:c.546G>T, NM_001010942.3:c.546G>T, NM_001010942.2:c.546G>T, NM_001251921.2:c.489G>T, NM_001251921.1:c.489G>T, NM_001251917.2:c.420G>T, NM_001251917.1:c.420G>T, NM_001251918.2:c.420G>T, NM_001251918.1:c.420G>T, NM_001251922.2:c.405G>T, NM_001251922.1:c.405G>T, NP_056461.1:p.Gln182His, NP_001010942.1:p.Gln182His, NP_001238850.1:p.Gln163His, NP_001238846.1:p.Gln140His, NP_001238847.1:p.Gln140His, NP_001238851.1:p.Gln135His

Select item 14604621947.

rs1460462194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:68657152 (GRCh38)
12:69050932 (GRCh37)
Canonical SPDI:: NC_000012.12:68657151:A:G
Gene:: RAP1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.68657152A>G, NC_000012.11:g.69050932A>G, NM_015646.6:c.520A>G, NM_015646.5:c.520A>G, NM_001010942.3:c.520A>G, NM_001010942.2:c.520A>G, NM_001251921.2:c.463A>G, NM_001251921.1:c.463A>G, NM_001251917.2:c.394A>G, NM_001251917.1:c.394A>G, NM_001251918.2:c.394A>G, NM_001251918.1:c.394A>G, NM_001251922.2:c.379A>G, NM_001251922.1:c.379A>G, NP_056461.1:p.Lys174Glu, NP_001010942.1:p.Lys174Glu, NP_001238850.1:p.Lys155Glu, NP_001238846.1:p.Lys132Glu, NP_001238847.1:p.Lys132Glu, NP_001238851.1:p.Lys127Glu

Select item 14473543478.

rs1447354347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:68654218 (GRCh38)
12:69047998 (GRCh37)
Canonical SPDI:: NC_000012.12:68654217:G:A
Gene:: RAP1B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.68654218G>A, NC_000012.11:g.69047998G>A, NM_015646.6:c.290G>A, NM_015646.5:c.290G>A, NM_001010942.3:c.290G>A, NM_001010942.2:c.290G>A, NM_001251921.2:c.233G>A, NM_001251921.1:c.233G>A, NM_001251917.2:c.164G>A, NM_001251917.1:c.164G>A, NM_001251918.2:c.164G>A, NM_001251918.1:c.164G>A, NP_056461.1:p.Arg97Lys, NP_001010942.1:p.Arg97Lys, NP_001238850.1:p.Arg78Lys, NP_001238846.1:p.Arg55Lys, NP_001238847.1:p.Arg55Lys

Select item 14415261969.

rs1441526196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:68657115 (GRCh38)
12:69050895 (GRCh37)
Canonical SPDI:: NC_000012.12:68657114:A:G
Gene:: RAP1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.68657115A>G, NC_000012.11:g.69050895A>G, NM_015646.6:c.483A>G, NM_015646.5:c.483A>G, NM_001010942.3:c.483A>G, NM_001010942.2:c.483A>G, NM_001251921.2:c.426A>G, NM_001251921.1:c.426A>G, NM_001251917.2:c.357A>G, NM_001251917.1:c.357A>G, NM_001251918.2:c.357A>G, NM_001251918.1:c.357A>G, NM_001251922.2:c.342A>G, NM_001251922.1:c.342A>G

Select item 141825050610.

rs1418250506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:68654182 (GRCh38)
12:69047962 (GRCh37)
Canonical SPDI:: NC_000012.12:68654181:C:T
Gene:: RAP1B (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.68654182C>T, NC_000012.11:g.69047962C>T, NM_015646.6:c.254C>T, NM_015646.5:c.254C>T, NM_001010942.3:c.254C>T, NM_001010942.2:c.254C>T, NM_001251921.2:c.197C>T, NM_001251921.1:c.197C>T, NM_001251917.2:c.128C>T, NM_001251917.1:c.128C>T, NM_001251918.2:c.128C>T, NM_001251918.1:c.128C>T, NP_056461.1:p.Thr85Ile, NP_001010942.1:p.Thr85Ile, NP_001238850.1:p.Thr66Ile, NP_001238846.1:p.Thr43Ile, NP_001238847.1:p.Thr43Ile

Select item 141739439811.

rs1417394398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:68656339 (GRCh38)
12:69050119 (GRCh37)
Canonical SPDI:: NC_000012.12:68656338:T:C
Gene:: RAP1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68656339T>C, NC_000012.11:g.69050119T>C, NM_015646.6:c.358T>C, NM_015646.5:c.358T>C, NM_001010942.3:c.358T>C, NM_001010942.2:c.358T>C, NM_001251921.2:c.301T>C, NM_001251921.1:c.301T>C, NM_001251917.2:c.232T>C, NM_001251917.1:c.232T>C, NM_001251918.2:c.232T>C, NM_001251918.1:c.232T>C, NM_001251922.2:c.217T>C, NM_001251922.1:c.217T>C

Select item 141140457012.

rs1411404570 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:68650444 (GRCh38)
12:69044224 (GRCh37)
Canonical SPDI:: NC_000012.12:68650443:T:C
Gene:: RAP1B (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.68650444T>C, NC_000012.11:g.69044224T>C, NM_015646.6:c.102T>C, NM_015646.5:c.102T>C, NM_001010942.3:c.102T>C, NM_001010942.2:c.102T>C, NM_001251921.2:c.102T>C, NM_001251921.1:c.102T>C, NM_001251922.2:c.102T>C, NM_001251922.1:c.102T>C

Select item 140347954913.

rs1403479549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:68654228 (GRCh38)
12:69048008 (GRCh37)
Canonical SPDI:: NC_000012.12:68654227:T:A
Gene:: RAP1B (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.68654228T>A, NC_000012.11:g.69048008T>A, NM_015646.6:c.300T>A, NM_015646.5:c.300T>A, NM_001010942.3:c.300T>A, NM_001010942.2:c.300T>A, NM_001251921.2:c.243T>A, NM_001251921.1:c.243T>A, NM_001251917.2:c.174T>A, NM_001251917.1:c.174T>A, NM_001251918.2:c.174T>A, NM_001251918.1:c.174T>A

Select item 139405633514.

rs1394056335 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:68656401 (GRCh38)
12:69050181 (GRCh37)
Canonical SPDI:: NC_000012.12:68656400:C:T
Gene:: RAP1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.68656401C>T, NC_000012.11:g.69050181C>T, NM_015646.6:c.420C>T, NM_015646.5:c.420C>T, NM_001010942.3:c.420C>T, NM_001010942.2:c.420C>T, NM_001251921.2:c.363C>T, NM_001251921.1:c.363C>T, NM_001251917.2:c.294C>T, NM_001251917.1:c.294C>T, NM_001251918.2:c.294C>T, NM_001251918.1:c.294C>T, NM_001251922.2:c.279C>T, NM_001251922.1:c.279C>T

Select item 139169529115.

rs1391695291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:68654191 (GRCh38)
12:69047971 (GRCh37)
Canonical SPDI:: NC_000012.12:68654190:C:G
Gene:: RAP1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.68654191C>G, NC_000012.11:g.69047971C>G, NM_015646.6:c.263C>G, NM_015646.5:c.263C>G, NM_001010942.3:c.263C>G, NM_001010942.2:c.263C>G, NM_001251921.2:c.206C>G, NM_001251921.1:c.206C>G, NM_001251917.2:c.137C>G, NM_001251917.1:c.137C>G, NM_001251918.2:c.137C>G, NM_001251918.1:c.137C>G, NP_056461.1:p.Ser88Cys, NP_001010942.1:p.Ser88Cys, NP_001238850.1:p.Ser69Cys, NP_001238846.1:p.Ser46Cys, NP_001238847.1:p.Ser46Cys

Select item 139156380316.

rs1391563803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:68657143 (GRCh38)
12:69050923 (GRCh37)
Canonical SPDI:: NC_000012.12:68657142:G:A,NC_000012.12:68657142:G:T
Gene:: RAP1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.68657143G>A, NC_000012.12:g.68657143G>T, NC_000012.11:g.69050923G>A, NC_000012.11:g.69050923G>T, NM_015646.6:c.511G>A, NM_015646.6:c.511G>T, NM_015646.5:c.511G>A, NM_015646.5:c.511G>T, NM_001010942.3:c.511G>A, NM_001010942.3:c.511G>T, NM_001010942.2:c.511G>A, NM_001010942.2:c.511G>T, NM_001251921.2:c.454G>A, NM_001251921.2:c.454G>T, NM_001251921.1:c.454G>A, NM_001251921.1:c.454G>T, NM_001251917.2:c.385G>A, NM_001251917.2:c.385G>T, NM_001251917.1:c.385G>A, NM_001251917.1:c.385G>T, NM_001251918.2:c.385G>A, NM_001251918.2:c.385G>T, NM_001251918.1:c.385G>A, NM_001251918.1:c.385G>T, NM_001251922.2:c.370G>A, NM_001251922.2:c.370G>T, NM_001251922.1:c.370G>A, NM_001251922.1:c.370G>T, NP_056461.1:p.Val171Met, NP_056461.1:p.Val171Leu, NP_001010942.1:p.Val171Met, NP_001010942.1:p.Val171Leu, NP_001238850.1:p.Val152Met, NP_001238850.1:p.Val152Leu, NP_001238846.1:p.Val129Met, NP_001238846.1:p.Val129Leu, NP_001238847.1:p.Val129Met, NP_001238847.1:p.Val129Leu, NP_001238851.1:p.Val124Met, NP_001238851.1:p.Val124Leu

Select item 138878603417.

rs1388786034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:68654192 (GRCh38)
12:69047972 (GRCh37)
Canonical SPDI:: NC_000012.12:68654191:C:T
Gene:: RAP1B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.68654192C>T, NC_000012.11:g.69047972C>T, NM_015646.6:c.264C>T, NM_015646.5:c.264C>T, NM_001010942.3:c.264C>T, NM_001010942.2:c.264C>T, NM_001251921.2:c.207C>T, NM_001251921.1:c.207C>T, NM_001251917.2:c.138C>T, NM_001251917.1:c.138C>T, NM_001251918.2:c.138C>T, NM_001251918.1:c.138C>T

Select item 138303151018.

rs1383031510 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:68657148 (GRCh38)
12:69050928 (GRCh37)
Canonical SPDI:: NC_000012.12:68657147:T:C
Gene:: RAP1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000012.12:g.68657148T>C, NC_000012.11:g.69050928T>C, NM_015646.6:c.516T>C, NM_015646.5:c.516T>C, NM_001010942.3:c.516T>C, NM_001010942.2:c.516T>C, NM_001251921.2:c.459T>C, NM_001251921.1:c.459T>C, NM_001251917.2:c.390T>C, NM_001251917.1:c.390T>C, NM_001251918.2:c.390T>C, NM_001251918.1:c.390T>C, NM_001251922.2:c.375T>C, NM_001251922.1:c.375T>C

Select item 137206522919.

rs1372065229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:68657179 (GRCh38)
12:69050959 (GRCh37)
Canonical SPDI:: NC_000012.12:68657178:C:T
Gene:: RAP1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.68657179C>T, NC_000012.11:g.69050959C>T, NM_015646.6:c.547C>T, NM_015646.5:c.547C>T, NM_001010942.3:c.547C>T, NM_001010942.2:c.547C>T, NM_001251921.2:c.490C>T, NM_001251921.1:c.490C>T, NM_001251917.2:c.421C>T, NM_001251917.1:c.421C>T, NM_001251918.2:c.421C>T, NM_001251918.1:c.421C>T, NM_001251922.2:c.406C>T, NM_001251922.1:c.406C>T

Select item 137067485920.

rs1370674859 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:68648769 (GRCh38)
12:69042549 (GRCh37)
Canonical SPDI:: NC_000012.12:68648768:A:C,NC_000012.12:68648768:A:G
Gene:: RAP1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.68648769A>C, NC_000012.12:g.68648769A>G, NC_000012.11:g.69042549A>C, NC_000012.11:g.69042549A>G, NM_015646.6:c.45A>C, NM_015646.6:c.45A>G, NM_015646.5:c.45A>C, NM_015646.5:c.45A>G, NM_001010942.3:c.45A>C, NM_001010942.3:c.45A>G, NM_001010942.2:c.45A>C, NM_001010942.2:c.45A>G, NM_001251921.2:c.45A>C, NM_001251921.2:c.45A>G, NM_001251921.1:c.45A>C, NM_001251921.1:c.45A>G, NM_001251917.2:c.45A>C, NM_001251917.2:c.45A>G, NM_001251917.1:c.45A>C, NM_001251917.1:c.45A>G, NM_001251918.2:c.45A>C, NM_001251918.2:c.45A>G, NM_001251918.1:c.45A>C, NM_001251918.1:c.45A>G, NM_001251922.2:c.45A>C, NM_001251922.2:c.45A>G, NM_001251922.1:c.45A>C, NM_001251922.1:c.45A>G

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