Linked Data
ClinVar Variation Id:
11934
dbSNP Id:
rs104895319
ExAC:
12:110032875 G / A
gnomAD v2:
12-110032875-G-A
gnomAD v3:
12-109595070-G-A
gnomAD v4:
12-109595070-G-A
COSMIC:
COSM1946627
PubMed:
PMID:10401001
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109595070G>A , CM000674.2:g.109595070G>A | GRCh38 |
| NC_000012.11:g.110032875G>A , CM000674.1:g.110032875G>A | GRCh37 |
| NC_000012.10:g.108517258G>A | NCBI36 |
| NG_007702.1:g.26376G>A , LRG_156:g.26376G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.85G>A | ENSP00000439134.1:p.Val29Met | |
| ENST00000546277.6:c.928G>A | ENSP00000438153.2:p.Val310Met | |
| ENST00000636529.2:n.567G>A | ||
| ENST00000697195.1:c.*692G>A | ENSP00000513181.1:n.*692G>A | |
| ENST00000697196.1:c.*101G>A | ENSP00000513182.1:n.*101G>A | |
| ENST00000697197.1:n.2957G>A | ||
| ENST00000697198.1:n.1312G>A | ||
| ENST00000228510.8:c.928G>A MANE Select | ENSP00000228510.3:p.Val310Met | |
| ENST00000636529.1:c.553G>A | ||
| ENST00000636996.1:c.776G>A | ||
| ENST00000228510.7:c.928G>A | ENSP00000228510.3:p.Val310Met | |
| ENST00000392727.7:c.772G>A | ENSP00000376487.3:p.Val258Met | |
| ENST00000447878.6:c.*375G>A | ENSP00000415555.2:n.*375G>A | |
| ENST00000537237.5:c.*601G>A | ENSP00000445382.1:n.*601G>A | |
| ENST00000539575.4:c.928G>A | ENSP00000443551.2:p.Val310Met | |
| ENST00000539696.5:c.85G>A | ENSP00000439134.1:p.Val29Met | |
| ENST00000540353.1:n.3161G>A | ||
| ENST00000625889.2:c.772G>A | ENSP00000486846.1:p.Val258Met | |
| ENST00000629016.2:c.*375G>A | ENSP00000486804.1:n.*375G>A | |
| NM_000431.3:c.928G>A | NP_000422.1:p.Val310Met | |
| NM_001114185.2:c.928G>A | NP_001107657.1:p.Val310Met | |
| NM_001301182.1:c.772G>A | NP_001288111.1:p.Val258Met | |
| XM_011538372.1:c.928G>A | XP_011536674.1:p.Val310Met | |
| XM_017019313.2:c.772G>A | XP_016874802.1:p.Val258Met | |
| XM_017019314.1:c.928G>A | XP_016874803.1:p.Val310Met | |
| NM_000431.4:c.928G>A MANE Select | NP_000422.1:p.Val310Met | |
| NM_001114185.3:c.928G>A | NP_001107657.1:p.Val310Met | |
| NM_001301182.2:c.772G>A | NP_001288111.1:p.Val258Met |