Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96393345T>C , CM000667.2:g.96393345T>C | GRCh38 |
| NC_000005.9:g.95729049T>C , CM000667.1:g.95729049T>C | GRCh37 |
| NC_000005.8:g.95754805T>C | NCBI36 |
| NG_021161.1:g.44937A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000439.5:c.1918A>G MANE Select | NP_000430.3:p.Thr640Ala |
| ENST00000311106.8:c.1918A>G MANE Select | ENSP00000308024.2:p.Thr640Ala |
| NM_000439.4:c.1918A>G | NP_000430.3:p.Thr640Ala |
| NM_001177875.1:c.1777A>G | NP_001171346.1:p.Thr593Ala |
| NM_001177875.2:c.1777A>G | NP_001171346.1:p.Thr593Ala |
| NR_130776.1:n.354+13693T>C | |
| ENST00000311106.7:c.1918A>G | ENSP00000308024.2:p.Thr640Ala |
| ENST00000508626.5:c.1777A>G | ENSP00000421600.1:p.Thr593Ala |
| ENST00000513085.1:n.1061A>G |