Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74338760C>G , CM000677.2:g.74338760C>G | GRCh38 |
| NC_000015.9:g.74631101C>G , CM000677.1:g.74631101C>G | GRCh37 |
| NC_000015.8:g.72418154C>G | NCBI36 |
| NG_007973.1:g.33982G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000781.3:c.1245G>C MANE Select | NP_000772.2:p.Val415= |
| ENST00000268053.11:c.1245G>C MANE Select | ENSP00000268053.6:p.Val415= |
| NM_000781.2:c.1245G>C | NP_000772.2:p.Val415= |
| NM_001099773.1:c.771G>C | NP_001093243.1:p.Val257= |
| NM_001099773.2:c.771G>C | NP_001093243.1:p.Val257= |
| ENST00000268053.10:c.1245G>C | ENSP00000268053.6:p.Val415= |
| ENST00000358632.8:c.771G>C | ENSP00000351455.4:p.Val257= |
| ENST00000435365.5:c.1166G>C | ENSP00000391081.1:p.Cys389Ser |
| ENST00000498141.1:n.88G>C |