dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46448270A>C , CM000682.2:g.46448270A>C | GRCh38 |
| NC_000020.10:g.45076909A>C , CM000682.1:g.45076909A>C | GRCh37 |
| NC_000020.9:g.44510316A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400371.2:n.1985+7625T>G |