Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018955G>C , CM000663.2:g.17018955G>C | GRCh38 |
| NC_000001.10:g.17345450G>C , CM000663.1:g.17345450G>C | GRCh37 |
| NC_000001.9:g.17218037G>C | NCBI36 |
| NG_012340.1:g.40216C>G , LRG_316:g.40216C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.769C>G MANE Select | NP_002991.2:p.Leu257Val |
| ENST00000375499.8:c.769C>G MANE Select | ENSP00000364649.3:p.Leu257Val |
| NM_003000.2:c.769C>G , LRG_316t1:c.769C>G | NP_002991.2:p.Leu257Val |
| ENST00000375499.7:c.769C>G | ENSP00000364649.3:p.Leu257Val |
| ENST00000463045.3:c.598C>G | ENSP00000481376.2:p.Leu200Val |
| ENST00000475049.5:n.194C>G | |
| ENST00000485092.5:n.433C>G | |
| ENST00000491274.6:c.727C>G | ENSP00000480482.2:p.Leu243Val |