Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180660569C>T , CM000665.2:g.180660569C>T | GRCh38 |
| NC_000003.11:g.180378357C>T , CM000665.1:g.180378357C>T | GRCh37 |
| NC_000003.10:g.181861051C>T | NCBI36 |
| NG_029581.1:g.23927G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181426.2:c.516+1G>A MANE Select | NP_852091.1:n.516+1G>A |
| ENST00000476379.6:c.516+1G>A MANE Select | ENSP00000417960.2:n.516+1G>A |
| NM_181426.1:c.516+1G>A | NP_852091.1:n.516+1G>A |
| ENST00000442201.6:c.516+1G>A | ENSP00000405708.2:n.516+1G>A |
| ENST00000476379.5:c.516+1G>A | ENSP00000417960.1:n.516+1G>A |
| ENST00000650641.1:n.595+1G>A | |
| ENST00000650889.1:n.688+1G>A | |
| ENST00000651046.1:c.516+1G>A | ENSP00000499175.1:n.516+1G>A |
| ENST00000651818.1:n.658+1G>A | |
| ENST00000652024.1:n.607+1G>A | |
| ENST00000652408.1:n.653+1G>A |