dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75133681G>C , CM000678.2:g.75133681G>C | GRCh38 |
| NC_000016.9:g.75167579G>C , CM000678.1:g.75167579G>C | GRCh37 |
| NC_000016.8:g.73725080G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011522921.1:c.35+1059G>C | XP_011521223.1:n.35+1059G>C | |
| XM_011522921.2:c.35+1059G>C | XP_011521223.1:n.35+1059G>C |