Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800238C>G , CM000666.2:g.24800238C>G | GRCh38 |
| NC_000004.11:g.24801860C>G , CM000666.1:g.24801860C>G | GRCh37 |
| NC_000004.10:g.24410958C>G | NCBI36 |
| NG_012213.1:g.9776C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.717C>G MANE Select | ENSP00000371554.3:p.Ala239= | |
| ENST00000382120.3:c.717C>G | ENSP00000371554.3:p.Ala239= | |
| NM_003102.2:c.717C>G | NP_003093.2:p.Ala239= | |
| XR_427488.1:n.907C>G | ||
| NM_003102.3:c.717C>G | NP_003093.2:p.Ala239= | |
| NM_003102.4:c.717C>G MANE Select | NP_003093.2:p.Ala239= |