Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160195976A>G , CM000663.2:g.160195976A>G | GRCh38 |
| NC_000001.10:g.160165766A>G , CM000663.1:g.160165766A>G | GRCh37 |
| NC_000001.9:g.158432390A>G | NCBI36 |
| NG_042040.1:g.10482A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001231.5:c.731A>G MANE Select | NP_001222.3:p.Asp244Gly |
| ENST00000368078.8:c.731A>G MANE Select | ENSP00000357057.3:p.Asp244Gly |
| NM_001231.4:c.731A>G | NP_001222.3:p.Asp244Gly |
| ENST00000368078.7:c.731A>G | ENSP00000357057.3:p.Asp244Gly |
| ENST00000481081.1:n.616A>G |