Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737960C>T , CM000674.2:g.120737960C>T | GRCh38 |
| NC_000012.11:g.121175763C>T , CM000674.1:g.121175763C>T | GRCh37 |
| NC_000012.10:g.119660146C>T | NCBI36 |
| NG_007991.1:g.17193C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000017.4:c.596C>T MANE Select | NP_000008.1:p.Ala199Val |
| ENST00000242592.9:c.596C>T MANE Select | ENSP00000242592.4:p.Ala199Val |
| NM_000017.3:c.596C>T | NP_000008.1:p.Ala199Val |
| NM_001302554.1:c.473-89C>T | NP_001289483.1:n.473-89C>T |
| NM_001302554.2:c.473-89C>T | NP_001289483.1:n.473-89C>T |
| ENST00000242592.8:c.596C>T | ENSP00000242592.4:p.Ala199Val |
| ENST00000411593.2:c.473-89C>T | ENSP00000401045.2:n.473-89C>T |