Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32083099G>A , CM000684.2:g.32083099G>A | GRCh38 |
| NC_000022.10:g.32479086G>A , CM000684.1:g.32479086G>A | GRCh37 |
| NC_000022.9:g.30809086G>A | NCBI36 |
| NG_017045.1:g.45068G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000343.4:c.609G>A MANE Select | NP_000334.1:p.Thr203= |
| ENST00000266088.9:c.609G>A MANE Select | ENSP00000266088.4:p.Thr203= |
| NM_000343.3:c.609G>A | NP_000334.1:p.Thr203= |
| NM_001256314.1:c.228G>A | NP_001243243.1:p.Thr76= |
| NM_001256314.2:c.228G>A | NP_001243243.1:p.Thr76= |
| ENST00000266088.8:c.609G>A | ENSP00000266088.4:p.Thr203= |
| ENST00000486394.1:n.49G>A | |
| ENST00000543737.2:c.228G>A | ENSP00000444898.1:p.Thr76= |
| XM_011530331.1:c.609G>A | XP_011528633.1:p.Thr203= |
| XR_938173.1:n.592-14296C>T | |
| XR_938174.1:n.487-14296C>T |