dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4315956G>T , CM000674.2:g.4315956G>T | GRCh38 |
| NC_000012.11:g.4425122G>T , CM000674.1:g.4425122G>T | GRCh37 |
| NC_000012.10:g.4295383G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648100.1:c.721-15324G>T | ENSP00000497536.1:n.721-15324G>T | |
| ENST00000674624.1:c.720+26966G>T | ENSP00000501898.1:n.720+26966G>T | |
| ENST00000635110.1:c.-146+7200G>T | ENSP00000488928.1:n.-146+7200G>T |