Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247140620G>T , CM000663.2:g.247140620G>T | GRCh38 |
| NC_000001.10:g.247303922G>T , CM000663.1:g.247303922G>T | GRCh37 |
| NC_000001.9:g.245370545G>T | NCBI36 |
| NG_029824.1:g.36397C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472531.5:c.219-16749C>A | ENSP00000462445.1:n.219-16749C>A | |
| ENST00000476312.1:n.94-1863C>A | ||
| ENST00000491356.5:c.219-1863C>A | ENSP00000463191.1:n.219-1863C>A | |
| NM_001243740.2:c.219-16749C>A | NP_001230669.1:n.219-16749C>A | |
| NM_001297567.1:c.219-1863C>A | NP_001284496.1:n.219-1863C>A | |
| NM_001243740.3:c.219-16749C>A | NP_001230669.1:n.219-16749C>A | |
| NM_001297567.2:c.219-1863C>A | NP_001284496.1:n.219-1863C>A |