Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81479452T>G , CM000670.2:g.81479452T>G | GRCh38 |
| NC_000008.10:g.82391687T>G , CM000670.1:g.82391687T>G | GRCh37 |
| NC_000008.9:g.82554242T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001442.3:c.310A>C MANE Select | NP_001433.1:p.Thr104Pro |
| ENST00000256104.5:c.310A>C MANE Select | ENSP00000256104.4:p.Thr104Pro |
| NM_001442.2:c.310A>C | NP_001433.1:p.Thr104Pro |
| ENST00000256104.4:c.310A>C | ENSP00000256104.4:p.Thr104Pro |
| ENST00000518669.5:n.245A>C | |
| ENST00000521734.1:n.519A>C | |
| ENST00000522659.1:c.*186A>C | ENSP00000428385.1:n.*186A>C |
| XR_001745980.1:n.514+17478T>G |