Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119915692C>A , CM000663.2:g.119915692C>A | GRCh38 |
| NC_000001.10:g.120458315C>A , CM000663.1:g.120458315C>A | GRCh37 |
| NC_000001.9:g.120259838C>A | NCBI36 |
| NG_008163.1:g.158962G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024408.4:c.7030G>T MANE Select | NP_077719.2:p.Glu2344Ter |
| ENST00000256646.7:c.7030G>T MANE Select | ENSP00000256646.2:p.Glu2344Ter |
| NM_024408.3:c.7030G>T | NP_077719.2:p.Glu2344Ter |
| ENST00000256646.6:c.7030G>T | ENSP00000256646.2:p.Glu2344Ter |
| XM_005270901.2:c.6913G>T | XP_005270958.1:p.Glu2305Ter |
| XM_011541519.1:c.7018G>T | XP_011539821.1:p.Glu2340Ter |
| XM_011541520.1:c.6913G>T | XP_011539822.1:p.Glu2305Ter |