Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854108C= , CM000671.2:g.97854108C= | GRCh38 |
| NC_000009.11:g.100616390C= , CM000671.1:g.100616390C= | GRCh37 |
| NC_000009.10:g.99656211C= | NCBI36 |
| NG_011979.1:g.5854C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004473.4:c.194C= MANE Select | NP_004464.2:p.Ala65= |
| ENST00000375123.5:c.194C= MANE Select | ENSP00000364265.3:p.Ala65= |
| NM_004473.3:c.194C= | NP_004464.2:p.Ala65= |
| ENST00000375123.4:c.194C= | ENSP00000364265.3:p.Ala65= |