Linked Data
dbSNP Id:
rs17120400
gnomAD v2:
1-60691588-G-A
gnomAD v3:
1-60225916-G-A
gnomAD v4:
1-60225916-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.60225916G>A , CM000663.2:g.60225916G>A | GRCh38 |
| NC_000001.10:g.60691588G>A , CM000663.1:g.60691588G>A | GRCh37 |
| NC_000001.9:g.60464176G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_947431.1:n.313+25671C>T | ||
| XR_947430.2:n.150-16909G>A | ||
| XR_947431.2:n.617+25671C>T |