Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44293154T>A , CM000683.2:g.44293154T>A | GRCh38 |
| NC_000021.8:g.45713037T>A , CM000683.1:g.45713037T>A | GRCh37 |
| NC_000021.7:g.44537465T>A | NCBI36 |
| NG_009556.1:g.12275T>A , LRG_18:g.12275T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.1257T>A MANE Select | NP_000374.1:p.Cys419Ter |
| ENST00000291582.6:c.1257T>A MANE Select | ENSP00000291582.5:p.Cys419Ter |
| NM_000383.3:c.1257T>A | NP_000374.1:p.Cys419Ter |
| ENST00000291582.5:c.1257T>A | ENSP00000291582.5:p.Cys419Ter |
| ENST00000337909.5:n.718T>A | |
| ENST00000397994.8:n.636T>A | |
| ENST00000527919.5:n.1987T>A | |
| ENST00000530812.5:n.3004T>A | |
| XM_011529551.1:c.1254T>A | XP_011527853.1:p.Cys418Ter |