Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2332019C>G , CM000682.2:g.2332019C>G | GRCh38 |
| NC_000020.10:g.2312665C>G , CM000682.1:g.2312665C>G | GRCh37 |
| NC_000020.9:g.2260665C>G | NCBI36 |
| NG_052959.1:g.41053C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003245.4:c.1351C>G MANE Select | NP_003236.3:p.Gln451Glu |
| ENST00000381458.6:c.1351C>G MANE Select | ENSP00000370867.5:p.Gln451Glu |
| NM_003245.3:c.1351C>G | NP_003236.3:p.Gln451Glu |
| ENST00000381458.5:c.1351C>G | ENSP00000370867.5:p.Gln451Glu |
| ENST00000651531.1:c.1408C>G | ENSP00000498584.1:p.Gln470Glu |