Linked Data
ClinVar Variation Id:
2643
ClinVar RCV Id:
RCV000002762
RCV000189769
RCV000210605
RCV000230952
RCV000763267
RCV001813939
RCV003398423
dbSNP Id:
rs119455955
ExAC:
11:6638271 G / A
gnomAD v2:
11-6638271-G-A
gnomAD v3:
11-6617040-G-A
gnomAD v4:
11-6617040-G-A
COSMIC:
COSM3718418
PubMed:
PMID:9295267
PMID:9788728
PMID:10330339
PMID:11017954
PMID:11071145
PMID:12376936
PMID:12414822
PMID:12488460
PMID:12796825
PMID:12950156
PMID:15317752
PMID:16782851
PMID:16814585
PMID:17679671
PMID:17959406
PMID:18283468
PMID:18473686
PMID:18684116
PMID:19201763
PMID:19793312
PMID:20301601
PMID:21990111
PMID:22245569
PMID:23266810
PMID:23418007
PMID:23539563
PMID:26075876
PMID:26795593
PMID:27407112
PMID:27553520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617040G>A , CM000673.2:g.6617040G>A | GRCh38 |
| NC_000011.9:g.6638271G>A , CM000673.1:g.6638271G>A | GRCh37 |
| NC_000011.8:g.6594847G>A | NCBI36 |
| NG_008653.1:g.7422C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682424.1:c.508C>T | ENSP00000507321.1:p.Arg170Ter | |
| ENST00000299427.12:c.622C>T MANE Select | ENSP00000299427.6:p.Arg208Ter | |
| ENST00000436873.7:c.312+261C>T | ||
| ENST00000524788.2:n.1781C>T | ||
| ENST00000524903.2:n.1897C>T | ||
| ENST00000528807.2:n.278C>T | ||
| ENST00000530040.2:n.479+319C>T | ||
| ENST00000533371.6:c.-108C>T | ENSP00000437066.1:n.-108C>T | |
| ENST00000534644.6:n.570C>T | ||
| ENST00000642892.1:c.-108C>T | ENSP00000494165.1:n.-108C>T | |
| ENST00000643439.1:c.*362C>T | ENSP00000495849.1:n.*362C>T | |
| ENST00000643479.1:n.651C>T | ||
| ENST00000643516.1:c.395+261C>T | ||
| ENST00000644151.1:n.2061C>T | ||
| ENST00000644218.1:c.622C>T | ENSP00000493574.1:p.Arg208Ter | |
| ENST00000644683.1:c.*75C>T | ENSP00000494085.1:n.*75C>T | |
| ENST00000644810.1:c.343C>T | ENSP00000495895.1:p.Arg115Ter | |
| ENST00000644831.1:n.798C>T | ||
| ENST00000644933.1:c.-108C>T | ENSP00000496133.1:n.-108C>T | |
| ENST00000645020.1:n.1797C>T | ||
| ENST00000645285.1:c.-108C>T | ENSP00000495058.1:n.-108C>T | |
| ENST00000645331.1:n.988C>T | ||
| ENST00000645620.1:c.-108C>T | ENSP00000493657.1:n.-108C>T | |
| ENST00000646777.1:n.798C>T | ||
| ENST00000647016.1:n.1102C>T | ||
| ENST00000647152.1:c.-108C>T | ENSP00000495893.1:n.-108C>T | |
| ENST00000647209.1:c.*491C>T | ENSP00000495558.1:n.*491C>T | |
| ENST00000647346.1:n.1642C>T | ||
| ENST00000299427.10:c.622C>T | ENSP00000299427.6:p.Arg208Ter | |
| ENST00000428886.6:n.791C>T | ||
| ENST00000436873.6:c.450+319C>T | ENSP00000398136.2:n.450+319C>T | |
| ENST00000524788.1:n.322C>T | ||
| ENST00000528571.5:c.*362C>T | ENSP00000434647.1:n.*362C>T | |
| ENST00000528807.1:n.172C>T | ||
| ENST00000533371.5:c.-108C>T | ENSP00000437066.1:n.-108C>T | |
| ENST00000534644.5:n.607C>T | ||
| ENST00000611494.4:c.622C>T | ENSP00000484546.1:p.Arg208Ter | |
| NM_000391.3:c.622C>T | NP_000382.3:p.Arg208Ter | |
| NM_000391.4:c.622C>T MANE Select | NP_000382.3:p.Arg208Ter |