dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.11007451G>C , CM000682.2:g.11007451G>C | GRCh38 |
| NC_000020.10:g.10988099G>C , CM000682.1:g.10988099G>C | GRCh37 |
| NC_000020.9:g.10936099G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_937255.1:n.4418+8753G>C | ||
| XR_937256.1:n.1356+8753G>C |