Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1329643G>C , CM000663.2:g.1329643G>C | GRCh38 |
| NC_000001.10:g.1265023G>C , CM000663.1:g.1265023G>C | GRCh37 |
| NC_000001.9:g.1254886G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011542239.1:c.-1703G>C | XP_011540541.1:n.-1703G>C |