Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67053887G>C , CM000663.2:g.67053887G>C | GRCh38 |
| NC_000001.10:g.67519570G>C , CM000663.1:g.67519570G>C | GRCh37 |
| NC_000001.9:g.67292158G>C | NCBI36 |
| NG_012933.1:g.5511C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235345.6:c.127C>G MANE Select | ENSP00000235345.5:p.Leu43Val | |
| ENST00000235345.5:c.127C>G | ENSP00000235345.5:p.Leu43Val | |
| NM_015139.2:c.127C>G | NP_055954.1:p.Leu43Val | |
| XM_006710478.1:c.127C>G | XP_006710541.1:p.Leu43Val | |
| XM_011541070.1:c.127C>G | XP_011539372.1:p.Leu43Val | |
| XM_006710478.2:c.127C>G | XP_006710541.1:p.Leu43Val | |
| XM_011541070.2:c.127C>G | XP_011539372.1:p.Leu43Val | |
| XR_001737057.2:n.537C>G | ||
| XR_001737058.2:n.530C>G | ||
| NM_015139.3:c.127C>G MANE Select | NP_055954.1:p.Leu43Val |