Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136650331A>G , CM000685.2:g.136650331A>G | GRCh38 |
| NC_000023.10:g.135732490A>G , CM000685.1:g.135732490A>G | GRCh37 |
| NC_000023.9:g.135560156A>G | NCBI36 |
| NG_007280.1:g.7155A>G , LRG_141:g.7155A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000074.3:c.222A>G MANE Select | NP_000065.1:p.Thr74= |
| ENST00000370629.7:c.222A>G MANE Select | ENSP00000359663.2:p.Thr74= |
| NM_000074.2:c.222A>G , LRG_141t1:c.222A>G | NP_000065.1:p.Thr74= |
| ENST00000370628.2:c.222A>G | ENSP00000359662.2:p.Thr74= |
| ENST00000370629.6:c.222A>G | ENSP00000359663.2:p.Thr74= |
| ENST00000695724.1:c.222A>G | ENSP00000512122.1:p.Thr74= |
| ENST00000695725.1:c.156+1927A>G | ENSP00000512123.1:n.156+1927A>G |
| ENST00000695726.1:n.265A>G | |
| ENST00000695727.1:n.209A>G | |
| ENST00000695728.1:n.209A>G |