Linked Data
ClinVar Variation Id:
1740560
ClinVar RCV Id:
RCV002333979
dbSNP Id:
rs750023626
ExAC:
22:51160692 C / T
gnomAD v2:
22-51160692-C-T
gnomAD v3:
22-50722264-C-T
gnomAD v4:
22-50722264-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50722264C>T , CM000684.2:g.50722264C>T | GRCh38 |
| NC_000022.10:g.51160692C>T , CM000684.1:g.51160692C>T | GRCh37 |
| NC_000022.9:g.49507558C>T | NCBI36 |
| NG_008607.2:g.52910C>T | |
| NG_070230.1:g.58048C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.4032C>T | ENSP00000489147.2:p.Pro1344= | |
| ENST00000414786.7:n.4616C>T | ||
| ENST00000445220.7:c.3084C>T | ENSP00000489407.2:p.Pro1028= | |
| ENST00000664402.2:c.2574C>T | ENSP00000499475.1:p.Pro858= | |
| ENST00000673971.2:c.*3030C>T | ENSP00000501192.1:n.*3030C>T | |
| ENST00000445220.6:c.3084C>T | ENSP00000489407.2:p.Pro1028= | |
| ENST00000262795.6:c.4032C>T | ENSP00000489147.2:p.Pro1344= | |
| ENST00000664402.1:c.2574C>T | ENSP00000499475.1:p.Pro858= | |
| ENST00000673971.1:c.*3030C>T | ENSP00000501192.1:n.*3030C>T | |
| ENST00000262795.5:c.4428C>T | ENSP00000489147.1:p.Pro1476= | |
| ENST00000414786.6:n.4616C>T | ||
| ENST00000445220.5:c.4410C>T | ENSP00000489407.1:p.Pro1470= |