Linked Data
dbSNP Id:
rs1234317
gnomAD v2:
1-173187775-C-T
gnomAD v3:
1-173218636-C-T
gnomAD v4:
1-173218636-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173218636C>T , CM000663.2:g.173218636C>T | GRCh38 |
| NC_000001.10:g.173187775C>T , CM000663.1:g.173187775C>T | GRCh37 |
| NC_000001.9:g.171454398C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_017002229.1:c.25-11451G>A | XP_016857718.1:n.25-11451G>A | |
| XM_017002230.1:c.19-11451G>A | XP_016857719.1:n.19-11451G>A |