Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23400916G>T , CM000676.2:g.23400916G>T | GRCh38 |
| NC_000014.8:g.23870125G>T , CM000676.1:g.23870125G>T | GRCh37 |
| NC_000014.7:g.22939965G>T | NCBI36 |
| NG_023444.1:g.12362C>A , LRG_389:g.12362C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002471.4:c.1203C>A MANE Select | NP_002462.2:p.Cys401Ter |
| ENST00000405093.9:c.1203C>A MANE Select | ENSP00000386041.3:p.Cys401Ter |
| NM_002471.3:c.1203C>A , LRG_389t1:c.1203C>A | NP_002462.2:p.Cys401Ter |
| ENST00000356287.3:c.1203C>A | ENSP00000348634.3:p.Cys401Ter |
| ENST00000405093.7:c.1203C>A | ENSP00000386041.3:p.Cys401Ter |
| ENST00000557461.1:n.1257C>A | |
| ENST00000557461.2:n.1270C>A |