Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.75211150G>A , CM000680.2:g.75211150G>A | GRCh38 |
| NC_000018.9:g.72923105G>A , CM000680.1:g.72923105G>A | GRCh37 |
| NC_000018.8:g.71052093G>A | NCBI36 |
| NG_032047.1:g.5396G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001308210.2:c.-727G>A MANE Select | NP_001295139.1:n.-727G>A |
| ENST00000580243.3:c.-727G>A MANE Select | ENSP00000464391.1:n.-727G>A |
| NM_005786.5:c.-189G>A | NP_005777.3:n.-189G>A |
| NM_005786.6:c.-189G>A | NP_005777.3:n.-189G>A |
| ENST00000322038.5:c.-189G>A | ENSP00000323584.5:n.-189G>A |