Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27103276C>G , CM000663.2:g.27103276C>G | GRCh38 |
| NC_000001.10:g.27429767C>G , CM000663.1:g.27429767C>G | GRCh37 |
| NC_000001.9:g.27302354C>G | NCBI36 |
| NG_030006.1:g.56685G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263980.8:c.1522G>C MANE Select | ENSP00000263980.3:p.Val508Leu | |
| ENST00000263980.7:c.1522G>C | ENSP00000263980.3:p.Val508Leu | |
| ENST00000374089.5:n.747G>C | ||
| NM_003047.4:c.1522G>C | NP_003038.2:p.Val508Leu | |
| NR_046474.1:n.1857G>C | ||
| XM_011542021.1:c.1192G>C | XP_011540323.1:p.Val398Leu | |
| XM_011542021.3:c.1192G>C | XP_011540323.1:p.Val398Leu | |
| NM_003047.5:c.1522G>C MANE Select | NP_003038.2:p.Val508Leu | |
| NR_046474.2:n.1852G>C |