Linked Data
dbSNP Id:
rs888338239
gnomAD v2:
12-115112401-G-A
gnomAD v3:
12-114674596-G-A
gnomAD v4:
12-114674596-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114674596G>A , CM000674.2:g.114674596G>A | GRCh38 |
| NC_000012.11:g.115112401G>A , CM000674.1:g.115112401G>A | GRCh37 |
| NC_000012.10:g.113596784G>A | NCBI36 |
| NG_008315.1:g.14569C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.1279C>T MANE Select | ENSP00000257567.2:p.Arg427Cys | |
| ENST00000257566.7:c.1339C>T | ENSP00000257566.3:p.Arg447Cys | |
| ENST00000349155.6:c.1279C>T | ENSP00000257567.2:p.Arg427Cys | |
| ENST00000613550.1:c.1279C>T | ENSP00000480048.1:p.Arg427Cys | |
| NM_005996.3:c.1279C>T | NP_005987.3:p.Arg427Cys | |
| NM_016569.3:c.1339C>T | NP_057653.3:p.Arg447Cys | |
| NM_005996.4:c.1279C>T MANE Select | NP_005987.3:p.Arg427Cys | |
| NM_016569.4:c.1339C>T | NP_057653.3:p.Arg447Cys |