Linked Data
dbSNP Id:
rs3763511
gnomAD v2:
8-42235858-G-A
gnomAD v3:
8-42378340-G-A
gnomAD v4:
8-42378340-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42378340G>A , CM000670.2:g.42378340G>A | GRCh38 |
| NC_000008.10:g.42235858G>A , CM000670.1:g.42235858G>A | GRCh37 |
| NC_000008.9:g.42355015G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011544486.1:c.-127-1168C>T | XP_011542788.1:n.-127-1168C>T | |
| XM_011544487.1:c.-127-1168C>T | XP_011542789.1:n.-127-1168C>T | |
| XM_011544488.1:c.-127-1168C>T | XP_011542790.1:n.-127-1168C>T | |
| XM_011544489.1:c.-127-1168C>T | XP_011542791.1:n.-127-1168C>T | |
| XM_011544488.2:c.-127-1168C>T | XP_011542790.1:n.-127-1168C>T | |
| XM_017013316.1:c.-127-1168C>T | XP_016868805.1:n.-127-1168C>T |