Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659107C>G , CM000685.2:g.136659107C>G | GRCh38 |
| NC_000023.10:g.135741266C>G , CM000685.1:g.135741266C>G | GRCh37 |
| NC_000023.9:g.135568932C>G | NCBI36 |
| NG_007280.1:g.15931C>G , LRG_141:g.15931C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000074.3:c.478C>G MANE Select | NP_000065.1:p.Gln160Glu |
| ENST00000370629.7:c.478C>G MANE Select | ENSP00000359663.2:p.Gln160Glu |
| NM_000074.2:c.478C>G , LRG_141t1:c.478C>G | NP_000065.1:p.Gln160Glu |
| ENST00000370628.2:c.415C>G | ENSP00000359662.2:p.Gln139Glu |
| ENST00000370629.6:c.478C>G | ENSP00000359663.2:p.Gln160Glu |
| ENST00000695724.1:c.*96C>G | ENSP00000512122.1:n.*96C>G |
| ENST00000695725.1:c.*33C>G | ENSP00000512123.1:n.*33C>G |
| ENST00000695726.1:n.2446C>G | |
| ENST00000695729.1:n.3281C>G |