Linked Data
dbSNP Id:
rs1927702
gnomAD v2:
9-15986716-T-C
gnomAD v3:
9-15986718-T-C
gnomAD v4:
9-15986718-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.15986718T>C , CM000671.2:g.15986718T>C | GRCh38 |
| NC_000009.11:g.15986716T>C , CM000671.1:g.15986716T>C | GRCh37 |
| NC_000009.10:g.15976716T>C | NCBI36 |
| NG_052634.1:g.438845T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000486641.2:n.369-33871T>C | ||
| XM_017014432.2:c.3870-31585T>C | XP_016869921.1:n.3870-31585T>C | |
| XM_017014437.2:c.3778-35614T>C | XP_016869926.1:n.3778-35614T>C | |
| XR_001746227.2:n.4248-49375T>C | ||
| XR_001746228.2:n.4248-35614T>C |