dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101668126G>C , CM000666.2:g.101668126G>C | GRCh38 |
| NC_000004.11:g.102589283G>C , CM000666.1:g.102589283G>C | GRCh37 |
| NC_000004.10:g.102808306G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504592.5:c.-255-1277G>C | ENSP00000421443.1:n.-255-1277G>C |