Linked Data
ClinVar Variation Id:
341237
ClinVar RCV Id:
RCV000334109
dbSNP Id:
rs200261297
ExAC:
22:32462909 T / A
gnomAD v2:
22-32462909-T-A
gnomAD v3:
22-32066922-T-A
gnomAD v4:
22-32066922-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32066922T>A , CM000684.2:g.32066922T>A | GRCh38 |
| NC_000022.10:g.32462909T>A , CM000684.1:g.32462909T>A | GRCh37 |
| NC_000022.9:g.30792909T>A | NCBI36 |
| NG_017045.1:g.28891T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.208-13T>A MANE Select | ENSP00000266088.4:n.208-13T>A | |
| ENST00000266088.8:c.208-13T>A | ENSP00000266088.4:n.208-13T>A | |
| ENST00000543737.2:c.-174-13T>A | ENSP00000444898.1:n.-174-13T>A | |
| NM_000343.3:c.208-13T>A | NP_000334.1:n.208-13T>A | |
| NM_001256314.1:c.-174-13T>A | NP_001243243.1:n.-174-13T>A | |
| XM_011530331.1:c.208-13T>A | XP_011528633.1:n.208-13T>A | |
| NM_000343.4:c.208-13T>A MANE Select | NP_000334.1:n.208-13T>A | |
| NM_001256314.2:c.-174-13T>A | NP_001243243.1:n.-174-13T>A |