dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.170776620G>C , CM000665.2:g.170776620G>C | GRCh38 |
| NC_000003.11:g.170494409G>C , CM000665.1:g.170494409G>C | GRCh37 |
| NC_000003.10:g.171977103G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486975.1:c.*44+68426G>C | ENSP00000417434.1:n.*44+68426G>C | |
| XR_924701.1:n.310+4553G>C | ||
| XR_924701.2:n.1210+4553G>C |