Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854430C>A , CM000671.2:g.97854430C>A | GRCh38 |
| NC_000009.11:g.100616712C>A , CM000671.1:g.100616712C>A | GRCh37 |
| NC_000009.10:g.99656533C>A | NCBI36 |
| NG_011979.1:g.6176C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375123.5:c.516C>A MANE Select | ENSP00000364265.3:p.Ala172= | |
| ENST00000375123.4:c.516C>A | ENSP00000364265.3:p.Ala172= | |
| NM_004473.3:c.516C>A | NP_004464.2:p.Ala172= | |
| NM_004473.4:c.516C>A MANE Select | NP_004464.2:p.Ala172= |