Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186534148G>A , CM000666.2:g.186534148G>A | GRCh38 |
| NC_000004.11:g.187455302G>A , CM000666.1:g.187455302G>A | GRCh37 |
| NC_000004.10:g.187692296G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703170.1:c.594C>T | ENSP00000515216.1:p.Val198= | |
| ENST00000307161.5:c.594C>T MANE Select | ENSP00000302811.5:p.Val198= | |
| ENST00000509111.2:c.147+21034C>T | ||
| NM_005958.3:c.594C>T | NP_005949.1:p.Val198= | |
| XM_011532002.1:c.339C>T | XP_011530304.1:p.Val113= | |
| XR_939589.1:n.1982-11496G>A | ||
| XR_939590.1:n.162-11496G>A | ||
| NM_005958.4:c.594C>T MANE Select | NP_005949.1:p.Val198= | |
| XM_011532002.3:c.339C>T | XP_011530304.1:p.Val113= | |
| XR_939589.2:n.1982-11496G>A | ||
| XR_939590.2:n.162-11496G>A |