Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52687758C>G , CM000663.2:g.52687758C>G | GRCh38 |
| NC_000001.10:g.53153430C>G , CM000663.1:g.53153430C>G | GRCh37 |
| NC_000001.9:g.52926018C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371538.5:c.658G>C MANE Select | ENSP00000360593.3:p.Glu220Gln | |
| ENST00000371538.4:c.658G>C | ENSP00000360593.3:p.Glu220Gln | |
| ENST00000486918.1:n.712G>C | ||
| NM_023077.2:c.658G>C | NP_075565.2:p.Glu220Gln | |
| NM_023077.3:c.658G>C MANE Select | NP_075565.2:p.Glu220Gln |