Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.38136401C>A , CM000663.2:g.38136401C>A | GRCh38 |
| NC_000001.10:g.38602073C>A , CM000663.1:g.38602073C>A | GRCh37 |
| NC_000001.9:g.38374660C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001737989.2:n.1236G>T | |
| XR_001737990.2:n.2251G>T | |
| XR_001737991.2:n.99G>T | |
| XR_947206.1:n.227G>T | |
| XR_947207.1:n.99G>T | |
| XR_947208.1:n.227G>T |