Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100883199G= , CM000676.2:g.100883199G= | GRCh38 |
| NC_000014.8:g.101349536G= , CM000676.1:g.101349536G= | GRCh37 |
| NC_000014.7:g.100419289G= | NCBI36 |
| NG_045001.1:g.6649C= | |
| NG_045000.5:g.51931G= | |
| NG_045000.6:g.51931G= | |
| NG_045001.2:g.25524C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1590C= MANE Select | ENSP00000497482.1:p.Cys530= | |
| ENST00000534062.1:c.1590C= | ENSP00000435342.1:p.Cys530= | |
| NM_001134888.2:c.1590C= | NP_001128360.1:p.Cys530= | |
| NM_001134888.3:c.1590C= MANE Select | NP_001128360.1:p.Cys530= |