Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134408232C>A , CM000671.2:g.134408232C>A | GRCh38 |
| NC_000009.11:g.137300078C>A , CM000671.1:g.137300078C>A | GRCh37 |
| NC_000009.10:g.136439899C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.363C>A MANE Select | ENSP00000419692.1:p.Ala121= | |
| ENST00000672570.1:c.282C>A | ENSP00000500402.1:p.Ala94= | |
| ENST00000356384.4:n.773C>A | ||
| ENST00000481739.1:c.363C>A | ENSP00000419692.1:p.Ala121= | |
| NM_001291920.1:c.282C>A | NP_001278849.1:p.Ala94= | |
| NM_001291921.1:c.72C>A | NP_001278850.1:p.Ala24= | |
| NM_002957.5:c.363C>A | NP_002948.1:p.Ala121= | |
| NM_002957.6:c.363C>A MANE Select | NP_002948.1:p.Ala121= | |
| NM_001291921.2:c.72C>A | NP_001278850.1:p.Ala24= | |
| NM_001291920.2:c.282C>A | NP_001278849.1:p.Ala94= |