Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565377C>T , CM000682.2:g.57565377C>T | GRCh38 |
| NC_000020.10:g.56140433C>T , CM000682.1:g.56140433C>T | GRCh37 |
| NC_000020.9:g.55573839C>T | NCBI36 |
| NG_008205.1:g.9297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1442C>T MANE Select | ENSP00000319814.4:p.Ala481Val | |
| ENST00000319441.5:c.1442C>T | ENSP00000319814.4:p.Ala481Val | |
| ENST00000467047.1:n.4084C>T | ||
| ENST00000485958.1:n.566C>T | ||
| NM_002591.3:c.1442C>T | NP_002582.3:p.Ala481Val | |
| XM_011528839.1:c.1046C>T | XP_011527141.1:p.Ala349Val | |
| XM_024451888.1:c.1046C>T | XP_024307656.1:p.Ala349Val | |
| NM_002591.4:c.1442C>T MANE Select | NP_002582.3:p.Ala481Val |