Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186534149A>T , CM000666.2:g.186534149A>T | GRCh38 |
| NC_000004.11:g.187455303A>T , CM000666.1:g.187455303A>T | GRCh37 |
| NC_000004.10:g.187692297A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703170.1:c.593T>A | ENSP00000515216.1:p.Val198Asp | |
| ENST00000307161.5:c.593T>A MANE Select | ENSP00000302811.5:p.Val198Asp | |
| ENST00000509111.2:c.147+21033T>A | ||
| NM_005958.3:c.593T>A | NP_005949.1:p.Val198Asp | |
| XM_011532002.1:c.338T>A | XP_011530304.1:p.Val113Asp | |
| XR_939589.1:n.1982-11495A>T | ||
| XR_939590.1:n.162-11495A>T | ||
| NM_005958.4:c.593T>A MANE Select | NP_005949.1:p.Val198Asp | |
| XM_011532002.3:c.338T>A | XP_011530304.1:p.Val113Asp | |
| XR_939589.2:n.1982-11495A>T | ||
| XR_939590.2:n.162-11495A>T |