Linked Data
dbSNP Id:
rs151213004
gnomAD v2:
6-151939820-C-A
gnomAD v3:
6-151618685-C-A
gnomAD v4:
6-151618685-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151618685C>A , CM000668.2:g.151618685C>A | GRCh38 |
| NC_000006.11:g.151939820C>A , CM000668.1:g.151939820C>A | GRCh37 |
| NC_000006.10:g.151981513C>A | NCBI36 |
| NG_021198.1:g.129646C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.*538C>A MANE Select | ENSP00000239374.6:n.*538C>A | |
| ENST00000239374.7:c.*538C>A | ENSP00000239374.6:n.*538C>A | |
| NM_025059.3:c.*538C>A | NP_079335.2:n.*538C>A | |
| XM_011536147.1:c.*538C>A | XP_011534449.1:n.*538C>A | |
| XM_011536148.1:c.*538C>A | XP_011534450.1:n.*538C>A | |
| XM_011536147.2:c.*538C>A | XP_011534449.1:n.*538C>A | |
| XM_011536148.2:c.*538C>A | XP_011534450.1:n.*538C>A | |
| NM_025059.4:c.*538C>A MANE Select | NP_079335.2:n.*538C>A |