Linked Data
ClinVar Variation Id:
341043
ClinVar RCV Id:
RCV000321004
dbSNP Id:
rs142497666
ExAC:
22:26995640 G / T
gnomAD v2:
22-26995640-G-T
gnomAD v3:
22-26599676-G-T
gnomAD v4:
22-26599676-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26599676G>T , CM000684.2:g.26599676G>T | GRCh38 |
| NC_000022.10:g.26995640G>T , CM000684.1:g.26995640G>T | GRCh37 |
| NC_000022.9:g.25325640G>T | NCBI36 |
| NG_009826.1:g.23352C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647684.1:c.576-3C>A MANE Select | ENSP00000497249.1:n.576-3C>A | |
| ENST00000215939.2:c.576-3C>A | ENSP00000215939.2:n.576-3C>A | |
| NM_001887.3:c.576-3C>A | NP_001878.1:n.576-3C>A | |
| XM_011529899.1:c.576-3C>A | XP_011528201.1:n.576-3C>A | |
| NM_001887.4:c.576-3C>A MANE Select | NP_001878.1:n.576-3C>A | |
| XM_011529899.3:c.576-3C>A | XP_011528201.1:n.576-3C>A |