Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56043377A>T , CM000674.2:g.56043377A>T | GRCh38 |
| NC_000012.11:g.56437161A>T , CM000674.1:g.56437161A>T | GRCh37 |
| NC_000012.10:g.54723428A>T | NCBI36 |
| NG_023201.1:g.6476A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001029.5:c.196A>T MANE Select | NP_001020.2:p.Lys66Ter |
| ENST00000646449.2:c.196A>T MANE Select | ENSP00000496643.1:p.Lys66Ter |
| NM_001029.3:c.196A>T | NP_001020.2:p.Lys66Ter |
| ENST00000356464.10:c.196A>T | ENSP00000348849.5:p.Lys66Ter |
| ENST00000356464.9:c.196A>T | ENSP00000348849.5:p.Lys66Ter |
| ENST00000548590.1:n.983A>T | |
| ENST00000552361.1:c.196A>T | ENSP00000450339.1:p.Lys66Ter |