dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58555182G>C , CM000679.2:g.58555182G>C | GRCh38 |
| NC_000017.10:g.56632543G>C , CM000679.1:g.56632543G>C | GRCh37 |
| NC_000017.9:g.53987542G>C | NCBI36 |
| NG_047169.1:g.141898C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110810.1:n.537-1627G>C |