Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.161423887C>T , CM000664.2:g.161423887C>T | GRCh38 |
| NC_000002.11:g.162280398C>T , CM000664.1:g.162280398C>T | GRCh37 |
| NC_000002.10:g.161988644C>T | NCBI36 |
| NG_046904.1:g.12779C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006593.4:c.1709C>T MANE Select | NP_006584.1:p.Ala570Val |
| ENST00000389554.8:c.1709C>T MANE Select | ENSP00000374205.3:p.Ala570Val |
| NM_006593.2:c.1709C>T | NP_006584.1:p.Ala570Val |
| NM_006593.3:c.1709C>T | NP_006584.1:p.Ala570Val |
| ENST00000389554.7:c.1709C>T | ENSP00000374205.3:p.Ala570Val |
| ENST00000410035.1:c.848C>T | ENSP00000387023.1:p.Ala283Val |