Linked Data
ClinVar Variation Id:
341908
dbSNP Id:
rs150693978
ExAC:
22:42459035 G / T
gnomAD v2:
22-42459035-G-T
gnomAD v3:
22-42063031-G-T
gnomAD v4:
22-42063031-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42063031G>T , CM000684.2:g.42063031G>T | GRCh38 |
| NC_000022.10:g.42459035G>T , CM000684.1:g.42459035G>T | GRCh37 |
| NC_000022.9:g.40788981G>T | NCBI36 |
| NG_009247.1:g.12812C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396398.8:c.760-7C>A MANE Select | ENSP00000379680.3:n.760-7C>A | |
| ENST00000396398.7:c.760-7C>A | ENSP00000379680.3:n.760-7C>A | |
| ENST00000402937.1:c.760-7C>A | ENSP00000384603.1:n.760-7C>A | |
| ENST00000403363.5:c.760-7C>A | ENSP00000385283.1:n.760-7C>A | |
| NM_000262.2:c.760-7C>A | NP_000253.1:n.760-7C>A | |
| XM_005261615.3:c.760-7C>A | XP_005261672.1:n.760-7C>A | |
| XM_005261616.3:c.760-7C>A | XP_005261673.1:n.760-7C>A | |
| NM_001362848.1:c.760-7C>A | NP_001349777.1:n.760-7C>A | |
| NM_001362850.1:c.760-7C>A | NP_001349779.1:n.760-7C>A | |
| NM_000262.3:c.760-7C>A MANE Select | NP_000253.1:n.760-7C>A |