dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71183321G>T , CM000674.2:g.71183321G>T | GRCh38 |
| NC_000012.11:g.71577101G>T , CM000674.1:g.71577101G>T | GRCh37 |
| NC_000012.10:g.69863368G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393330.6:c.-109-25534C>A | ENSP00000377003.2:n.-109-25534C>A | |
| ENST00000549421.1:n.207-25534C>A |