Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83509034C>G , CM000685.2:g.83509034C>G | GRCh38 |
| NG_009936.2:g.5774C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000307.5:c.710C>G MANE Select | NP_000298.3:p.Ala237Gly |
| ENST00000644024.2:c.710C>G MANE Select | ENSP00000495996.1:p.Ala237Gly |
| NM_000307.4:c.710C>G | NP_000298.3:p.Ala237Gly |
| ENST00000373200.4:c.710C>G | ENSP00000362296.2:p.Ala237Gly |