Linked Data
dbSNP Id:
rs2057178
gnomAD v2:
11-32364187-G-A
gnomAD v3:
11-32342641-G-A
gnomAD v4:
11-32342641-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32342641G>A , CM000673.2:g.32342641G>A | GRCh38 |
| NC_000011.9:g.32364187G>A , CM000673.1:g.32364187G>A | GRCh37 |
| NC_000011.8:g.32320763G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525689.2:n.122+647C>T | ||
| ENST00000525689.1:n.122+647C>T |