dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60490561C>G , CM000676.2:g.60490561C>G | GRCh38 |
| NC_000014.8:g.60957279C>G , CM000676.1:g.60957279C>G | GRCh37 |
| NC_000014.7:g.60027032C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556799.1:c.-8-5475G>C | ENSP00000451441.1:n.-8-5475G>C | |
| XM_017021250.2:c.-5+8735G>C | XP_016876739.1:n.-5+8735G>C |