dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89023563C>A , CM000672.2:g.89023563C>A | GRCh38 |
| NC_000010.10:g.90783320C>A , CM000672.1:g.90783320C>A | GRCh37 |
| NC_000010.9:g.90773300C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690268.1:c.*9113C>A | ENSP00000509810.1:n.*9113C>A |