Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.198638880T>A , CM000663.2:g.198638880T>A | GRCh38 |
| NC_000001.10:g.198608010T>A , CM000663.1:g.198608010T>A | GRCh37 |
| NC_000001.9:g.196874633T>A | NCBI36 |
| NG_007730.1:g.4786T>A | |
| NG_007730.2:g.4786T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000367379.5:c.-44+182T>A | ENSP00000356349.2:n.-44+182T>A |
| ENST00000367379.6:c.-44+182T>A | ENSP00000356349.2:n.-44+182T>A |
| ENST00000643513.1:c.-44+94T>A | ENSP00000494132.1:n.-44+94T>A |