Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152205542C>G , CM000663.2:g.152205542C>G | GRCh38 |
| NC_000001.10:g.152178018C>G , CM000663.1:g.152178018C>G | GRCh37 |
| NC_000001.9:g.150444642C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002958366.1:n.936-318C>G |