Linked Data
dbSNP Id:
rs777248914
ExAC:
6:31322903 C / A
gnomAD v2:
6-31322903-C-A
gnomAD v3:
6-31355126-C-A
gnomAD v4:
6-31355126-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355126C>A , CM000668.2:g.31355126C>A | GRCh38 |
| NC_000006.11:g.31322903C>A , CM000668.1:g.31322903C>A | GRCh37 |
| NC_000006.10:g.31430882C>A | NCBI36 |
| NG_023187.1:g.7087G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.3040G>T | ||
| ENST00000481849.6:n.2559G>T | ||
| ENST00000497377.6:n.2466G>T | ||
| ENST00000640094.2:c.895+191G>T | ENSP00000491275.2:n.895+191G>T | |
| ENST00000696558.1:c.1062G>T | ENSP00000512716.1:n.1062G>T | |
| ENST00000696559.1:c.993G>T | ENSP00000512717.1:p.Met331Ile | |
| ENST00000696560.1:c.993G>T | ENSP00000512718.1:p.Met331Ile | |
| ENST00000696561.1:c.993G>T | ENSP00000512719.1:p.Met331Ile | |
| ENST00000696562.1:c.993G>T | ENSP00000512720.1:p.Met331Ile | |
| ENST00000412585.7:c.993G>T MANE Select | ENSP00000399168.2:p.Met331Ile | |
| ENST00000640094.1:c.88+191G>T | ENSP00000491275.1:n.88+191G>T | |
| ENST00000412585.6:c.993G>T | ENSP00000399168.2:p.Met331Ile | |
| ENST00000463574.1:n.584G>T | ||
| NM_005514.6:c.993G>T | NP_005505.2:p.Met331Ile | |
| XM_011514556.1:c.1026G>T | XP_011512858.1:p.Met342Ile | |
| XM_011514557.1:c.895+191G>T | XP_011512859.1:n.895+191G>T | |
| XR_926175.1:n.1432G>T | ||
| NM_005514.7:c.993G>T | NP_005505.2:p.Met331Ile | |
| NM_005514.8:c.993G>T MANE Select | NP_005505.2:p.Met331Ile |