Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273583G>A , CM000679.2:g.58273583G>A | GRCh38 |
| NC_000017.10:g.56350944G>A , CM000679.1:g.56350944G>A | GRCh37 |
| NC_000017.9:g.53705943G>A | NCBI36 |
| NG_009629.1:g.12353C>T , LRG_84:g.12353C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.785C>T | ||
| ENST00000699291.1:c.577C>T | ENSP00000514272.1:n.577C>T | |
| ENST00000699292.1:n.492C>T | ||
| ENST00000225275.4:c.1452C>T MANE Select | ENSP00000225275.3:p.Asp484= | |
| ENST00000225275.3:c.1452C>T | ENSP00000225275.3:p.Asp484= | |
| NM_000250.1:c.1452C>T , LRG_84t1:c.1452C>T | NP_000241.1:p.Asp484= | |
| XM_011524821.1:c.1638C>T | XP_011523123.1:p.Asp546= | |
| XM_011524822.1:c.1167C>T | XP_011523124.1:p.Asp389= | |
| XM_011524823.1:c.*1C>T | XP_011523125.1:n.*1C>T | |
| NM_000250.2:c.1452C>T MANE Select | NP_000241.1:p.Asp484= |