Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171630813G>A , CM000663.2:g.171630813G>A | GRCh38 |
| NC_000001.10:g.171599953G>A , CM000663.1:g.171599953G>A | GRCh37 |
| NC_000001.9:g.169866576G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000637303.1:c.234+4221G>A | ENSP00000490048.1:n.234+4221G>A |