Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2297858G>C , CM000678.2:g.2297858G>C | GRCh38 |
| NC_000016.9:g.2347859G>C , CM000678.1:g.2347859G>C | GRCh37 |
| NC_000016.8:g.2287860G>C | NCBI36 |
| NG_011790.1:g.47889C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.1960C>G MANE Select | NP_001080.2:p.Leu654Val |
| ENST00000301732.10:c.1960C>G MANE Select | ENSP00000301732.5:p.Leu654Val |
| NM_001089.2:c.1960C>G | NP_001080.2:p.Leu654Val |
| ENST00000301732.9:c.1960C>G | ENSP00000301732.5:p.Leu654Val |
| ENST00000382381.7:c.1786C>G | ENSP00000371818.3:p.Leu596Val |
| ENST00000563623.5:n.2523C>G |