Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15161381T>A , CM000681.2:g.15161381T>A | GRCh38 |
| NC_000019.9:g.15272192T>A , CM000681.1:g.15272192T>A | GRCh37 |
| NC_000019.8:g.15133192T>A | NCBI36 |
| NG_009819.1:g.44601A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000435.3:c.6247A>T MANE Select | NP_000426.2:p.Lys2083Ter |
| ENST00000263388.7:c.6247A>T MANE Select | ENSP00000263388.1:p.Lys2083Ter |
| NM_000435.2:c.6247A>T | NP_000426.2:p.Lys2083Ter |
| ENST00000263388.6:c.6247A>T | ENSP00000263388.1:p.Lys2083Ter |
| XM_005259924.3:c.6091A>T | XP_005259981.1:p.Lys2031Ter |
| XM_005259924.4:c.6091A>T | XP_005259981.1:p.Lys2031Ter |