Linked Data
dbSNP Id:
rs17632091
gnomAD v2:
5-3417577-G-A
gnomAD v3:
5-3417463-G-A
gnomAD v4:
5-3417463-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.3417463G>A , CM000667.2:g.3417463G>A | GRCh38 |
| NC_000005.9:g.3417577G>A , CM000667.1:g.3417577G>A | GRCh37 |
| NC_000005.8:g.3470577G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_033898.1:n.2888C>T |