Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94005470G>A , CM000663.2:g.94005470G>A | GRCh38 |
| NC_000001.10:g.94471026G>A , CM000663.1:g.94471026G>A | GRCh37 |
| NC_000001.9:g.94243614G>A | NCBI36 |
| NG_009073.1:g.120680C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.6118C>T MANE Select | NP_000341.2:p.Arg2040Ter |
| ENST00000370225.4:c.6118C>T MANE Select | ENSP00000359245.3:p.Arg2040Ter |
| NM_000350.2:c.6118C>T | NP_000341.2:p.Arg2040Ter |
| ENST00000370225.3:c.6118C>T | ENSP00000359245.3:p.Arg2040Ter |
| ENST00000465352.1:n.534C>T | |
| ENST00000484388.1:n.232C>T | |
| ENST00000536513.5:c.2494C>T | ENSP00000439707.2:p.Arg832Ter |