Linked Data
dbSNP Id:
rs1291731292
gnomAD v2:
3-184971998-T-C
gnomAD v3:
3-185254210-T-C
gnomAD v4:
3-185254210-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185254210T>C , CM000665.2:g.185254210T>C | GRCh38 |
| NC_000003.11:g.184971998T>C , CM000665.1:g.184971998T>C | GRCh37 |
| NC_000003.10:g.186454692T>C | NCBI36 |
| NG_015999.1:g.4889A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465178.1:n.228-5693A>G | ||
| XM_011512517.1:c.-214-5693A>G | XP_011510819.1:n.-214-5693A>G |