Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183243203C>A , CM000663.2:g.183243203C>A | GRCh38 |
| NC_000001.10:g.183212338C>A , CM000663.1:g.183212338C>A | GRCh37 |
| NC_000001.9:g.181478961C>A | NCBI36 |
| NG_007079.2:g.61940C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264144.5:c.3385C>A MANE Select | ENSP00000264144.4:p.Arg1129= | |
| ENST00000264144.4:c.3385C>A | ENSP00000264144.4:p.Arg1129= | |
| NM_005562.2:c.3385C>A | NP_005553.2:p.Arg1129= | |
| NM_005562.3:c.3385C>A MANE Select | NP_005553.2:p.Arg1129= |