Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110281247A>G , CM000674.2:g.110281247A>G | GRCh38 |
| NC_000012.11:g.110719052A>G , CM000674.1:g.110719052A>G | GRCh37 |
| NC_000012.10:g.109203435A>G | NCBI36 |
| NG_007097.2:g.4621A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_170665.4:c.-543A>G MANE Select | NP_733765.1:n.-543A>G |
| ENST00000539276.7:c.-543A>G MANE Select | ENSP00000440045.2:n.-543A>G |
| NM_001681.3:c.-543A>G | NP_001672.1:n.-543A>G |
| NM_001681.4:c.-543A>G | NP_001672.1:n.-543A>G |
| NM_170665.3:c.-543A>G | NP_733765.1:n.-543A>G |
| ENST00000308664.10:c.-543A>G | ENSP00000311186.6:n.-543A>G |
| ENST00000552636.1:c.-184+283A>G | ENSP00000447406.1:n.-184+283A>G |
| ENST00000552636.2:c.-258+283A>G | ENSP00000447406.2:n.-258+283A>G |