Linked Data
ClinVar Variation Id:
533009
ClinVar RCV Id:
RCV001459999
dbSNP Id:
rs375946807
ExAC:
22:42463109 T / A
gnomAD v2:
22-42463109-T-A
gnomAD v3:
22-42067105-T-A
gnomAD v4:
22-42067105-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42067105T>A , CM000684.2:g.42067105T>A | GRCh38 |
| NC_000022.10:g.42463109T>A , CM000684.1:g.42463109T>A | GRCh37 |
| NC_000022.9:g.40793055T>A | NCBI36 |
| NG_009247.1:g.8738A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396398.8:c.502+8A>T MANE Select | ENSP00000379680.3:n.502+8A>T | |
| ENST00000396398.7:c.502+8A>T | ENSP00000379680.3:n.502+8A>T | |
| ENST00000402937.1:c.502+8A>T | ENSP00000384603.1:n.502+8A>T | |
| ENST00000403363.5:c.502+8A>T | ENSP00000385283.1:n.502+8A>T | |
| NM_000262.2:c.502+8A>T | NP_000253.1:n.502+8A>T | |
| XM_005261615.3:c.502+8A>T | XP_005261672.1:n.502+8A>T | |
| XM_005261616.3:c.502+8A>T | XP_005261673.1:n.502+8A>T | |
| NM_001362848.1:c.502+8A>T | NP_001349777.1:n.502+8A>T | |
| NM_001362850.1:c.502+8A>T | NP_001349779.1:n.502+8A>T | |
| NM_000262.3:c.502+8A>T MANE Select | NP_000253.1:n.502+8A>T |