Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183239438A>T , CM000663.2:g.183239438A>T | GRCh38 |
| NC_000001.10:g.183208573A>T , CM000663.1:g.183208573A>T | GRCh37 |
| NC_000001.9:g.181475196A>T | NCBI36 |
| NG_007079.2:g.58175A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005562.3:c.2944A>T MANE Select | NP_005553.2:p.Lys982Ter |
| ENST00000264144.5:c.2944A>T MANE Select | ENSP00000264144.4:p.Lys982Ter |
| NM_005562.2:c.2944A>T | NP_005553.2:p.Lys982Ter |
| NM_018891.2:c.2944A>T | NP_061486.2:p.Lys982Ter |
| NM_018891.3:c.2944A>T | NP_061486.2:p.Lys982Ter |
| ENST00000264144.4:c.2944A>T | ENSP00000264144.4:p.Lys982Ter |
| ENST00000493293.5:c.2944A>T | ENSP00000432063.1:p.Lys982Ter |