Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119140806G>A , CM000663.2:g.119140806G>A | GRCh38 |
| NC_000001.10:g.119683429G>A , CM000663.1:g.119683429G>A | GRCh37 |
| NC_000001.9:g.119484952G>A | NCBI36 |
| NG_050658.1:g.4983C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125974.1:n.398+13G>A | ||
| NR_125975.1:n.398+13G>A | ||
| NR_125976.1:n.398+13G>A | ||
| NR_125977.1:n.398+13G>A |