Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40863123C>T , CM000679.2:g.40863123C>T | GRCh38 |
| NC_000017.10:g.39019375C>T , CM000679.1:g.39019375C>T | GRCh37 |
| NC_000017.9:g.36272901C>T | NCBI36 |
| NG_008077.1:g.9088G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000223.4:c.1316G>A MANE Select | NP_000214.1:p.Gly439Asp |
| ENST00000251643.5:c.1316G>A MANE Select | ENSP00000251643.4:p.Gly439Asp |
| NM_000223.3:c.1316G>A | NP_000214.1:p.Gly439Asp |
| ENST00000251643.4:c.1316G>A | ENSP00000251643.4:p.Gly439Asp |
| ENST00000648535.1:n.608G>A | |
| XR_934754.1:n.1500+12263C>T | |
| XR_934754.2:n.2008+12263C>T |