Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144359G>C , CM000670.2:g.38144359G>C | GRCh38 |
| NC_000008.10:g.38001877G>C , CM000670.1:g.38001877G>C | GRCh37 |
| NC_000008.9:g.38121034G>C | NCBI36 |
| NG_011827.1:g.11724C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000349.3:c.772C>G MANE Select | NP_000340.2:p.Gln258Glu |
| ENST00000276449.9:c.772C>G MANE Select | ENSP00000276449.3:p.Gln258Glu |
| NM_000349.2:c.772C>G | NP_000340.2:p.Gln258Glu |
| ENST00000276449.8:c.772C>G | ENSP00000276449.3:p.Gln258Glu |
| ENST00000520114.1:n.2741C>G | |
| ENST00000522050.1:c.614C>G | |
| XM_006716392.1:c.678C>G | XP_006716455.1:p.Thr226= |