Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244451673G>C , CM000663.2:g.244451673G>C | GRCh38 |
| NC_000001.10:g.244614975G>C , CM000663.1:g.244614975G>C | GRCh37 |
| NC_000001.9:g.242681598G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001126.5:c.145C>G MANE Select | NP_001117.2:p.Leu49Val |
| ENST00000366535.4:c.145C>G MANE Select | ENSP00000355493.3:p.Leu49Val |
| NM_001126.3:c.145C>G | NP_001117.2:p.Leu49Val |
| NM_001126.4:c.145C>G | NP_001117.2:p.Leu49Val |
| NM_001365073.1:c.145C>G | NP_001352002.1:p.Leu49Val |
| NM_001365073.2:c.145C>G | NP_001352002.1:p.Leu49Val |
| ENST00000366535.3:c.145C>G | ENSP00000355493.3:p.Leu49Val |
| XM_011544109.1:c.3+338C>G | XP_011542411.1:n.3+338C>G |