Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018904T>C , CM000663.2:g.17018904T>C | GRCh38 |
| NC_000001.10:g.17345399T>C , CM000663.1:g.17345399T>C | GRCh37 |
| NC_000001.9:g.17217986T>C | NCBI36 |
| NG_012340.1:g.40267A>G , LRG_316:g.40267A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.649A>G | ENSP00000481376.2:p.Lys217Glu | |
| ENST00000491274.6:c.778A>G | ENSP00000480482.2:p.Lys260Glu | |
| ENST00000375499.8:c.820A>G MANE Select | ENSP00000364649.3:p.Lys274Glu | |
| ENST00000375499.7:c.820A>G | ENSP00000364649.3:p.Lys274Glu | |
| ENST00000475049.5:n.245A>G | ||
| ENST00000485092.5:n.484A>G | ||
| NM_003000.2:c.820A>G , LRG_316t1:c.820A>G | NP_002991.2:p.Lys274Glu | |
| NM_003000.3:c.820A>G MANE Select | NP_002991.2:p.Lys274Glu |