Linked Data
ClinVar Variation Id:
2752448
ClinVar RCV Id:
RCV003566429
dbSNP Id:
rs367625562
ExAC:
1:155644828 C / T
gnomAD v2:
1-155644828-C-T
gnomAD v3:
1-155675037-C-T
gnomAD v4:
1-155675037-C-T
COSMIC:
COSM896965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155675037C>T , CM000663.2:g.155675037C>T | GRCh38 |
| NC_000001.10:g.155644828C>T , CM000663.1:g.155644828C>T | GRCh37 |
| NC_000001.9:g.153911452C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355499.9:c.384G>A MANE Select | ENSP00000347686.4:p.Pro128= | |
| ENST00000295566.8:c.582G>A | ENSP00000295566.4:p.Pro194= | |
| ENST00000311573.9:c.351G>A | ENSP00000311138.5:p.Pro117= | |
| ENST00000347088.9:c.384G>A | ENSP00000316079.6:p.Pro128= | |
| ENST00000354691.9:c.384G>A | ENSP00000346722.5:p.Pro128= | |
| ENST00000355499.8:c.384G>A | ENSP00000347686.4:p.Pro128= | |
| ENST00000359205.9:c.351G>A | ENSP00000352134.5:p.Pro117= | |
| ENST00000361140.8:c.384G>A | ENSP00000354716.4:p.Pro128= | |
| ENST00000361831.9:c.351G>A | ENSP00000355298.5:p.Pro117= | |
| ENST00000368330.6:c.384G>A | ENSP00000357314.2:p.Pro128= | |
| ENST00000368339.9:c.798G>A | ENSP00000357323.5:p.Pro266= | |
| ENST00000368340.9:c.798G>A | ENSP00000357324.5:p.Pro266= | |
| ENST00000404643.5:c.384G>A | ENSP00000385390.1:p.Pro128= | |
| ENST00000405763.7:c.798G>A | ENSP00000384583.3:p.Pro266= | |
| ENST00000407221.5:c.351G>A | ENSP00000385791.1:p.Pro117= | |
| ENST00000436865.5:c.*393G>A | ENSP00000390116.1:n.*393G>A | |
| ENST00000443231.5:c.351G>A | ENSP00000409203.1:p.Pro117= | |
| ENST00000454523.5:c.384G>A | ENSP00000413240.1:p.Pro128= | |
| ENST00000466366.1:n.315G>A | ||
| ENST00000476027.5:n.594G>A | ||
| ENST00000476093.5:n.409G>A | ||
| ENST00000477470.1:n.15G>A | ||
| ENST00000488784.5:n.38G>A | ||
| ENST00000493625.5:n.375G>A | ||
| ENST00000496324.5:n.344+1511G>A | ||
| NM_001198899.1:c.351G>A | NP_001185828.1:p.Pro117= | |
| NM_001198900.1:c.351G>A | NP_001185829.1:p.Pro117= | |
| NM_001198901.1:c.384G>A | NP_001185830.1:p.Pro128= | |
| NM_001198902.1:c.384G>A | NP_001185831.1:p.Pro128= | |
| NM_001198903.1:c.798G>A | NP_001185832.1:p.Pro266= | |
| NM_001198904.1:c.798G>A | NP_001185833.1:p.Pro266= | |
| NM_001198905.1:c.384G>A | NP_001185834.1:p.Pro128= | |
| NM_001198906.1:c.582G>A | NP_001185835.1:p.Pro194= | |
| NM_018253.3:c.351G>A | NP_060723.2:p.Pro117= | |
| NM_139118.2:c.582G>A | NP_620829.1:p.Pro194= | |
| NM_139119.2:c.384G>A | NP_620830.1:p.Pro128= | |
| NM_139121.2:c.186G>A | NP_620832.1:p.Pro62= | |
| XM_011509721.1:c.582G>A | XP_011508023.1:p.Pro194= | |
| XM_011509722.1:c.351G>A | XP_011508024.1:p.Pro117= | |
| NM_001198906.2:c.582G>A | NP_001185835.1:p.Pro194= | |
| NM_001198899.2:c.351G>A | NP_001185828.1:p.Pro117= | |
| NM_001198900.2:c.351G>A | NP_001185829.1:p.Pro117= | |
| NM_001198901.2:c.384G>A | NP_001185830.1:p.Pro128= | |
| NM_001198902.2:c.384G>A | NP_001185831.1:p.Pro128= | |
| NM_001198905.2:c.384G>A | NP_001185834.1:p.Pro128= | |
| NM_018253.4:c.351G>A | NP_060723.2:p.Pro117= | |
| NM_139118.3:c.582G>A | NP_620829.1:p.Pro194= | |
| NM_139119.3:c.384G>A MANE Select | NP_620830.1:p.Pro128= | |
| NM_139121.3:c.186G>A | NP_620832.1:p.Pro62= |