Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228158175C>A , CM000663.2:g.228158175C>A | GRCh38 |
| NC_000001.10:g.228345876C>A , CM000663.1:g.228345876C>A | GRCh37 |
| NC_000001.9:g.226412499C>A | NCBI36 |
| NG_011838.1:g.13324C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366714.3:c.417C>A MANE Select | ENSP00000355675.2:p.Ala139= | |
| ENST00000366714.2:c.417C>A | ENSP00000355675.2:p.Ala139= | |
| NM_020435.3:c.417C>A | NP_065168.2:p.Ala139= | |
| NM_020435.4:c.417C>A MANE Select | NP_065168.2:p.Ala139= |