Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85477263C>G , CM000670.2:g.85477263C>G | GRCh38 |
| NC_000008.10:g.86389492C>G , CM000670.1:g.86389492C>G | GRCh37 |
| NC_000008.9:g.86576744C>G | NCBI36 |
| NG_007287.1:g.18247C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000067.3:c.651C>G MANE Select | NP_000058.1:p.Val217= |
| ENST00000285379.10:c.651C>G MANE Select | ENSP00000285379.4:p.Val217= |
| NM_000067.2:c.651C>G | NP_000058.1:p.Val217= |
| NM_001293675.1:c.348C>G | NP_001280604.1:p.Val116= |
| NM_001293675.2:c.348C>G | NP_001280604.1:p.Val116= |
| ENST00000285379.9:c.651C>G | ENSP00000285379.4:p.Val217= |
| ENST00000520127.5:c.*238C>G | ENSP00000428443.1:n.*238C>G |