Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.112948751C>T , CM000672.2:g.112948751C>T | GRCh38 |
| NC_000010.10:g.114708510C>T , CM000672.1:g.114708510C>T | GRCh37 |
| NC_000010.9:g.114698500C>T | NCBI36 |
| NG_012631.1:g.3502C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_002956958.1:n.4787C>T |