Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136654430G>T , CM000685.2:g.136654430G>T | GRCh38 |
| NC_000023.10:g.135736589G>T , CM000685.1:g.135736589G>T | GRCh37 |
| NC_000023.9:g.135564255G>T | NCBI36 |
| NG_007280.1:g.11254G>T , LRG_141:g.11254G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000074.3:c.346G>T MANE Select | NP_000065.1:p.Gly116Cys |
| ENST00000370629.7:c.346G>T MANE Select | ENSP00000359663.2:p.Gly116Cys |
| NM_000074.2:c.346G>T , LRG_141t1:c.346G>T | NP_000065.1:p.Gly116Cys |
| ENST00000370628.2:c.346G>T | ENSP00000359662.2:p.Val116Leu |
| ENST00000370629.6:c.346G>T | ENSP00000359663.2:p.Gly116Cys |
| ENST00000695724.1:c.289-1926G>T | ENSP00000512122.1:n.289-1926G>T |
| ENST00000695725.1:c.157-4609G>T | ENSP00000512123.1:n.157-4609G>T |
| ENST00000695726.1:n.389G>T | |
| ENST00000695729.1:n.1224G>T |