Linked Data
ClinVar Variation Id:
11929
dbSNP Id:
rs28934897
ExAC:
12:110034320 G / A
gnomAD v2:
12-110034320-G-A
gnomAD v3:
12-109596515-G-A
gnomAD v4:
12-109596515-G-A
COSMIC:
COSM1239505
PubMed:
PMID:10369261
PMID:10369262
PMID:11313769
PMID:12444096
PMID:12634869
PMID:15536479
PMID:19011501
PMID:21228398
PMID:22038276
PMID:23692791
PMID:23979089
PMID:24088041
PMID:24177804
PMID:24233262
PMID:24360083
PMID:24470648
PMID:24561416
PMID:25708585
PMID:25866490
PMID:26633545
PMID:26977311
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109596515G>A , CM000674.2:g.109596515G>A | GRCh38 |
| NC_000012.11:g.110034320G>A , CM000674.1:g.110034320G>A | GRCh37 |
| NC_000012.10:g.108518703G>A | NCBI36 |
| NG_007702.1:g.27821G>A , LRG_156:g.27821G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539696.6:c.286G>A | ENSP00000439134.1:p.Val96Ile | |
| ENST00000546277.6:c.1129G>A | ENSP00000438153.2:p.Val377Ile | |
| ENST00000636529.2:n.768G>A | ||
| ENST00000697195.1:c.*893G>A | ENSP00000513181.1:n.*893G>A | |
| ENST00000697196.1:c.*302G>A | ENSP00000513182.1:n.*302G>A | |
| ENST00000697197.1:n.3158G>A | ||
| ENST00000697198.1:n.1513G>A | ||
| ENST00000228510.8:c.1129G>A MANE Select | ENSP00000228510.3:p.Val377Ile | |
| ENST00000636529.1:c.754G>A | ||
| ENST00000636996.1:c.977G>A | ||
| ENST00000228510.7:c.1129G>A | ENSP00000228510.3:p.Val377Ile | |
| ENST00000392727.7:c.973G>A | ENSP00000376487.3:p.Val325Ile | |
| ENST00000447878.6:c.*576G>A | ENSP00000415555.2:n.*576G>A | |
| ENST00000537237.5:c.*802G>A | ENSP00000445382.1:n.*802G>A | |
| ENST00000539575.4:c.1129G>A | ENSP00000443551.2:p.Val377Ile | |
| ENST00000539696.5:c.286G>A | ENSP00000439134.1:p.Val96Ile | |
| ENST00000540353.1:n.3362G>A | ||
| ENST00000625889.2:c.973G>A | ENSP00000486846.1:p.Val325Ile | |
| ENST00000629016.2:c.*576G>A | ENSP00000486804.1:n.*576G>A | |
| NM_000431.3:c.1129G>A | NP_000422.1:p.Val377Ile | |
| NM_001114185.2:c.1129G>A | NP_001107657.1:p.Val377Ile | |
| NM_001301182.1:c.973G>A | NP_001288111.1:p.Val325Ile | |
| XM_011538372.1:c.1129G>A | XP_011536674.1:p.Val377Ile | |
| XM_017019313.2:c.973G>A | XP_016874802.1:p.Val325Ile | |
| XM_017019314.1:c.1129G>A | XP_016874803.1:p.Val377Ile | |
| NM_000431.4:c.1129G>A MANE Select | NP_000422.1:p.Val377Ile | |
| NM_001114185.3:c.1129G>A | NP_001107657.1:p.Val377Ile | |
| NM_001301182.2:c.973G>A | NP_001288111.1:p.Val325Ile |