Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1329589C>T , CM000663.2:g.1329589C>T | GRCh38 |
| NC_000001.10:g.1264969C>T , CM000663.1:g.1264969C>T | GRCh37 |
| NC_000001.9:g.1254832C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011542239.1:c.-1757C>T | XP_011540541.1:n.-1757C>T |