Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61045739G>A , CM000664.2:g.61045739G>A | GRCh38 |
| NC_000002.11:g.61272874G>A , CM000664.1:g.61272874G>A | GRCh37 |
| NC_000002.10:g.61126378G>A | NCBI36 |
| NG_008665.1:g.33063G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002618.4:c.801G>A MANE Select | NP_002609.1:p.Trp267Ter |
| ENST00000295030.6:c.801G>A MANE Select | ENSP00000295030.4:p.Trp267Ter |
| NM_002618.3:c.801G>A | NP_002609.1:p.Trp267Ter |
| ENST00000295030.5:c.801G>A | ENSP00000295030.4:p.Trp267Ter |
| XM_011532904.1:c.684G>A | XP_011531206.1:p.Trp228Ter |