Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.56088489G>A , CM000681.2:g.56088489G>A | GRCh38 |
| NC_000019.9:g.56599858G>A , CM000681.1:g.56599858G>A | GRCh37 |
| NC_000019.8:g.61291670G>A | NCBI36 |
| NG_054921.1:g.37885C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001002836.4:c.683C>T MANE Select | NP_001002836.2:p.Ala228Val |
| ENST00000610935.2:c.683C>T MANE Select | ENSP00000478557.1:p.Ala228Val |
| NM_001002836.3:c.683C>T | NP_001002836.2:p.Ala228Val |
| ENST00000610935.1:c.683C>T | ENSP00000478557.1:p.Ala228Val |
| XM_011526445.1:c.683C>T | XP_011524747.1:p.Ala228Val |
| XM_011526445.2:c.683C>T | XP_011524747.1:p.Ala228Val |