Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38311912C>T , CM000682.2:g.38311912C>T | GRCh38 |
| NC_000020.10:g.36940314C>T , CM000682.1:g.36940314C>T | GRCh37 |
| NC_000020.9:g.36373728C>T | NCBI36 |
| NG_047016.1:g.12763C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262865.9:c.587C>T | ENSP00000262865.4:p.Ala196Val | |
| ENST00000642449.2:c.575C>T MANE Select | ENSP00000494528.2:p.Ala192Val | |
| ENST00000262865.8:c.587C>T | ENSP00000262865.4:p.Ala196Val | |
| NM_001725.2:c.587C>T | NP_001716.2:p.Ala196Val | |
| XM_005260522.2:c.587C>T | XP_005260579.1:p.Ala196Val | |
| XR_430313.2:n.616C>T | ||
| XR_936707.1:n.135+5513G>A | ||
| XR_936708.1:n.135+5513G>A | ||
| NM_001725.3:c.575C>T MANE Select | NP_001716.3:p.Ala192Val |