Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64159159A>G , CM000663.2:g.64159159A>G | GRCh38 |
| NC_000001.10:g.64624842A>G , CM000663.1:g.64624842A>G | GRCh37 |
| NC_000001.9:g.64397430A>G | NCBI36 |
| NG_032801.1:g.390142A>G | |
| NG_032801.2:g.390141A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005012.4:c.1353A>G MANE Select | NP_005003.2:p.Val451= |
| ENST00000371079.6:c.1353A>G MANE Select | ENSP00000360120.1:p.Val451= |
| NM_005012.3:c.1353A>G | NP_005003.2:p.Val451= |
| ENST00000371079.5:c.1353A>G | ENSP00000360120.1:p.Val451= |
| ENST00000545203.2:c.1188A>G | ENSP00000441637.2:p.Val396= |
| XM_011541526.1:c.1164A>G | XP_011539828.1:p.Val388= |
| XM_017001376.1:c.1293A>G | XP_016856865.1:p.Val431= |
| XM_017001377.1:c.1164A>G | XP_016856866.1:p.Val388= |