Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212883375C>A , CM000663.2:g.212883375C>A | GRCh38 |
| NC_000001.10:g.213056717C>A , CM000663.1:g.213056717C>A | GRCh37 |
| NC_000001.9:g.211123340C>A | NCBI36 |
| NG_028131.1:g.30121C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.1029C>A MANE Select | ENSP00000355938.4:p.Ile343= | |
| ENST00000366971.8:c.1029C>A | ENSP00000355938.4:p.Ile343= | |
| ENST00000419102.1:c.425C>A | ||
| ENST00000474693.1:n.254C>A | ||
| NM_014053.3:c.1029C>A | NP_054772.1:p.Ile343= | |
| XM_011509446.1:c.1029C>A | XP_011507748.1:p.Ile343= | |
| XR_247024.1:n.1203C>A | ||
| XR_426771.1:n.1330C>A | ||
| XM_011509446.3:c.1029C>A | XP_011507748.1:p.Ile343= | |
| XR_247024.3:n.1203C>A | ||
| NM_014053.4:c.1029C>A MANE Select | NP_054772.1:p.Ile343= |