Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.56249289C= , CM000682.2:g.56249289C= | GRCh38 |
| NC_000020.10:g.54824345C= , CM000682.1:g.54824345C= | GRCh37 |
| NC_000020.9:g.54257752C= | NCBI36 |
| NG_012200.1:g.5558C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243911.2:c.446C= MANE Select | ENSP00000243911.2:p.Ala149= | |
| NM_019888.3:c.446C= MANE Select | NP_063941.3:p.Ala149= |