Linked Data
dbSNP Id:
rs3117099
gnomAD v2:
6-32358270-G-A
gnomAD v3:
6-32390493-G-A
gnomAD v4:
6-32390493-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32390493G>A , CM000668.2:g.32390493G>A | GRCh38 |
| NC_000006.11:g.32358270G>A , CM000668.1:g.32358270G>A | GRCh37 |
| NC_000006.10:g.32466248G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011515039.1:c.482-14961G>A | XP_011513341.1:n.482-14961G>A | |
| NR_136245.1:n.303-14961G>A |