Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15442493G>C , CM000663.2:g.15442493G>C | GRCh38 |
| NC_000001.10:g.15768989G>C , CM000663.1:g.15768989G>C | GRCh37 |
| NC_000001.9:g.15641576G>C | NCBI36 |
| NG_009253.1:g.9052G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007272.3:c.277G>C MANE Select | NP_009203.2:p.Val93Leu |
| ENST00000375949.5:c.277G>C MANE Select | ENSP00000365116.4:p.Val93Leu |
| NM_007272.2:c.277G>C | NP_009203.2:p.Val93Leu |
| ENST00000375943.6:c.87G>C | ENSP00000365110.2:p.Arg29Ser |
| ENST00000375949.4:c.277G>C | ENSP00000365116.4:p.Val93Leu |
| ENST00000476813.5:n.99G>C | |
| ENST00000483406.1:n.187G>C | |
| XM_011540550.1:c.277G>C | XP_011538852.1:p.Val93Leu |