Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924530C= , CM000675.2:g.27924530C= | GRCh38 |
| NC_000013.10:g.28498667C= , CM000675.1:g.28498667C= | GRCh37 |
| NC_000013.9:g.27396667C= | NCBI36 |
| NG_008183.1:g.9500C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.681C= MANE Select | ENSP00000370421.4:p.Cys227= | |
| ENST00000381033.4:c.681C= | ENSP00000370421.4:p.Cys227= | |
| NM_000209.3:c.681C= | NP_000200.1:p.Cys227= | |
| NM_000209.4:c.681C= MANE Select | NP_000200.1:p.Cys227= |