Linked Data
dbSNP Id:
rs756666358
ExAC:
6:31322412 G / A
gnomAD v2:
6-31322412-G-A
gnomAD v3:
6-31354635-G-A
gnomAD v4:
6-31354635-G-A
COSMIC:
COSM3253038
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31354635G>A , CM000668.2:g.31354635G>A | GRCh38 |
| NC_000006.11:g.31322412G>A , CM000668.1:g.31322412G>A | GRCh37 |
| NC_000006.10:g.31430391G>A | NCBI36 |
| NG_023187.1:g.7578C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.3090C>T | ||
| ENST00000481849.6:n.3050C>T | ||
| ENST00000497377.6:n.2957C>T | ||
| ENST00000640094.2:c.926C>T | ENSP00000491275.2:p.Ala309Val | |
| ENST00000696558.1:c.1112C>T | ENSP00000512716.1:n.1112C>T | |
| ENST00000696559.1:c.1043C>T | ENSP00000512717.1:p.Ala348Val | |
| ENST00000696560.1:c.1043C>T | ENSP00000512718.1:p.Ala348Val | |
| ENST00000696561.1:c.1043C>T | ENSP00000512719.1:p.Ala348Val | |
| ENST00000696562.1:c.1043C>T | ENSP00000512720.1:p.Ala348Val | |
| ENST00000412585.7:c.1043C>T MANE Select | ENSP00000399168.2:p.Ala348Val | |
| ENST00000640094.1:c.119C>T | ENSP00000491275.1:p.Ala40Val | |
| ENST00000412585.6:c.1043C>T | ENSP00000399168.2:p.Ala348Val | |
| ENST00000481849.5:n.172C>T | ||
| ENST00000497377.5:n.442C>T | ||
| NM_005514.6:c.1043C>T | NP_005505.2:p.Ala348Val | |
| XM_011514556.1:c.1076C>T | XP_011512858.1:p.Ala359Val | |
| XM_011514557.1:c.926C>T | XP_011512859.1:p.Ala309Val | |
| XR_926175.1:n.1482C>T | ||
| NM_005514.7:c.1043C>T | NP_005505.2:p.Ala348Val | |
| NM_005514.8:c.1043C>T MANE Select | NP_005505.2:p.Ala348Val |