Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746103C>T , CM000666.2:g.41746103C>T | GRCh38 |
| NC_000004.11:g.41748120C>T , CM000666.1:g.41748120C>T | GRCh37 |
| NC_000004.10:g.41442877C>T | NCBI36 |
| NG_008243.1:g.7868G>A , LRG_513:g.7868G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003924.4:c.649G>A MANE Select | NP_003915.2:p.Gly217Arg |
| ENST00000226382.4:c.649G>A MANE Select | ENSP00000226382.2:p.Gly217Arg |
| NM_003924.3:c.649G>A , LRG_513t1:c.649G>A | NP_003915.2:p.Gly217Arg |
| ENST00000226382.3:c.649G>A | ENSP00000226382.2:p.Gly217Arg |
| ENST00000510424.2:n.470G>A |