Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110181341C>A , CM000675.2:g.110181341C>A | GRCh38 |
| NC_000013.10:g.110833688C>A , CM000675.1:g.110833688C>A | GRCh37 |
| NC_000013.9:g.109631689C>A | NCBI36 |
| NG_011544.2:g.130809G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001845.6:c.2144G>T MANE Select | NP_001836.3:p.Arg715Leu |
| ENST00000375820.10:c.2144G>T MANE Select | ENSP00000364979.4:p.Arg715Leu |
| NM_001845.5:c.2144G>T | NP_001836.3:p.Arg715Leu |
| ENST00000375820.8:c.2144G>T | ENSP00000364979.4:p.Arg715Leu |
| ENST00000649738.1:n.2274G>T | |
| XM_011521048.1:c.1952G>T | XP_011519350.1:p.Arg651Leu |
| XM_011521048.2:c.1952G>T | XP_011519350.1:p.Arg651Leu |