Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203122146G>A , CM000663.2:g.203122146G>A | GRCh38 |
| NC_000001.10:g.203091274G>A , CM000663.1:g.203091274G>A | GRCh37 |
| NC_000001.9:g.201357897G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000309502.7:c.-312-5683G>A | ENSP00000308549.3:n.-312-5683G>A |