Linked Data
ClinVar Variation Id:
2370353
ClinVar RCV Id:
RCV004212081
dbSNP Id:
rs370648687
ExAC:
13:113055415 C / A
gnomAD v2:
13-113055415-C-A
gnomAD v3:
13-112401101-C-A
gnomAD v4:
13-112401101-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.112401101C>A , CM000675.2:g.112401101C>A | GRCh38 |
| NC_000013.10:g.113055415C>A , CM000675.1:g.113055415C>A | GRCh37 |
| NC_000013.9:g.112103416C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283550.8:c.382C>A MANE Select | ENSP00000283550.3:p.Pro128Thr | |
| ENST00000283550.7:c.382C>A | ENSP00000283550.3:p.Pro128Thr | |
| ENST00000375699.3:c.289C>A | ENSP00000364851.3:p.Pro97Thr | |
| NM_145248.4:c.382C>A | NP_660291.2:p.Pro128Thr | |
| XM_011537465.1:c.454C>A | XP_011535767.1:p.Pro152Thr | |
| XM_011537466.1:c.433C>A | XP_011535768.1:p.Pro145Thr | |
| XM_011537467.1:c.376C>A | XP_011535769.1:p.Pro126Thr | |
| XM_011537468.1:c.340C>A | XP_011535770.1:p.Pro114Thr | |
| XM_011537469.1:c.454C>A | XP_011535771.1:p.Pro152Thr | |
| XM_011537470.1:c.256C>A | XP_011535772.1:p.Pro86Thr | |
| XM_011537471.1:c.247C>A | XP_011535773.1:p.Pro83Thr | |
| XM_011537472.1:c.235C>A | XP_011535774.1:p.Pro79Thr | |
| XM_011537473.1:c.178C>A | XP_011535775.1:p.Pro60Thr | |
| XR_944292.1:n.247-9707G>T | ||
| XR_944294.1:n.227-9707G>T | ||
| XM_011537467.2:c.376C>A | XP_011535769.1:p.Pro126Thr | |
| XM_011537468.2:c.340C>A | XP_011535770.1:p.Pro114Thr | |
| XM_011537471.2:c.247C>A | XP_011535773.1:p.Pro83Thr | |
| XM_011537472.2:c.235C>A | XP_011535774.1:p.Pro79Thr | |
| XM_017020391.1:c.178C>A | XP_016875880.1:p.Pro60Thr | |
| XM_017020392.1:c.142C>A | XP_016875881.1:p.Pro48Thr | |
| XM_024449318.1:c.376C>A | XP_024305086.1:p.Pro126Thr | |
| XR_001750036.1:n.385-9707G>T | ||
| XR_944292.2:n.333-9707G>T | ||
| XR_944294.2:n.330-9707G>T | ||
| NM_145248.5:c.382C>A MANE Select | NP_660291.2:p.Pro128Thr |