Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768449C>A , CM000676.2:g.28768449C>A | GRCh38 |
| NC_000014.8:g.29237655C>A , CM000676.1:g.29237655C>A | GRCh37 |
| NC_000014.7:g.28307406C>A | NCBI36 |
| NG_009367.1:g.6369C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005249.5:c.1170C>A MANE Select | NP_005240.3:p.Cys390Ter |
| ENST00000313071.7:c.1170C>A MANE Select | ENSP00000339004.3:p.Cys390Ter |
| NM_005249.4:c.1170C>A | NP_005240.3:p.Cys390Ter |
| ENST00000313071.6:c.1170C>A | ENSP00000339004.3:p.Cys390Ter |
| ENST00000706482.1:c.1170C>A | ENSP00000516406.1:p.Cys390Ter |