Linked Data
dbSNP Id:
rs188107248
gnomAD v2:
6-32358153-G-A
gnomAD v3:
6-32390376-G-A
gnomAD v4:
6-32390376-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32390376G>A , CM000668.2:g.32390376G>A | GRCh38 |
| NC_000006.11:g.32358153G>A , CM000668.1:g.32358153G>A | GRCh37 |
| NC_000006.10:g.32466131G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011515039.1:c.482-15078G>A | XP_011513341.1:n.482-15078G>A | |
| NR_136245.1:n.303-15078G>A |