Linked Data
dbSNP Id:
rs1050723
ExAC:
6:31323321 G / A
gnomAD v2:
6-31323321-G-A
gnomAD v3:
6-31355544-G-A
gnomAD v4:
6-31355544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355544G>A , CM000668.2:g.31355544G>A | GRCh38 |
| NC_000006.11:g.31323321G>A , CM000668.1:g.31323321G>A | GRCh37 |
| NC_000006.10:g.31431300G>A | NCBI36 |
| NG_023187.1:g.6669C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.2715C>T | ||
| ENST00000481849.6:n.2141C>T | ||
| ENST00000497377.6:n.2141C>T | ||
| ENST00000640094.2:c.668C>T | ENSP00000491275.2:p.Ala223Val | |
| ENST00000696558.1:c.737C>T | ENSP00000512716.1:n.737C>T | |
| ENST00000696559.1:c.668C>T | ENSP00000512717.1:p.Ala223Val | |
| ENST00000696560.1:c.668C>T | ENSP00000512718.1:p.Ala223Val | |
| ENST00000696561.1:c.668C>T | ENSP00000512719.1:p.Ala223Val | |
| ENST00000696562.1:c.668C>T | ENSP00000512720.1:p.Ala223Val | |
| ENST00000412585.7:c.668C>T MANE Select | ENSP00000399168.2:p.Ala223Val | |
| ENST00000412585.6:c.668C>T | ENSP00000399168.2:p.Ala223Val | |
| ENST00000434333.1:c.701C>T | ENSP00000405931.1:p.Ala234Val | |
| ENST00000463574.1:n.259C>T | ||
| ENST00000474381.1:n.1117C>T | ||
| ENST00000498007.1:n.934C>T | ||
| NM_005514.6:c.668C>T | NP_005505.2:p.Ala223Val | |
| XM_011514556.1:c.701C>T | XP_011512858.1:p.Ala234Val | |
| XM_011514557.1:c.668C>T | XP_011512859.1:p.Ala223Val | |
| XR_926175.1:n.1107C>T | ||
| NM_005514.7:c.668C>T | NP_005505.2:p.Ala223Val | |
| NM_005514.8:c.668C>T MANE Select | NP_005505.2:p.Ala223Val |