Linked Data
ClinVar Variation Id:
1146649
ClinVar RCV Id:
RCV001485943
dbSNP Id:
rs151230738
ExAC:
11:119210197 C / A
gnomAD v2:
11-119210197-C-A
gnomAD v4:
11-119339487-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119339487C>A , CM000673.2:g.119339487C>A | GRCh38 |
| NC_000011.9:g.119210197C>A , CM000673.1:g.119210197C>A | GRCh37 |
| NC_000011.8:g.118715407C>A | NCBI36 |
| NG_012235.1:g.12187G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528368.3:c.576G>T (C1QTNF5) MANE Select | ENSP00000431140.1:p.Ser192= | |
| ENST00000619721.6:c.*1472G>T (MFRP) MANE Select | ENSP00000481824.1:n.*1472G>T | |
| ENST00000525657.2:n.466G>T (C1QTNF5) | ||
| ENST00000528368.2:c.576G>T (C1QTNF5) | ENSP00000431140.1:p.Ser192= | |
| ENST00000530681.2:c.576G>T (C1QTNF5) | ENSP00000456533.2:p.Ser192= | |
| ENST00000619721.5:c.*1472G>T (MFRP) | ENSP00000481824.1:n.*1472G>T | |
| NM_001278431.1:c.576G>T (C1QTNF5) | NP_001265360.1:p.Ser192= | |
| NM_015645.4:c.576G>T (C1QTNF5) | NP_056460.1:p.Ser192= | |
| NM_031433.3:c.*1472G>T (MFRP) | NP_113621.1:n.*1472G>T | |
| NM_001278431.2:c.576G>T (C1QTNF5) MANE Select | NP_001265360.1:p.Ser192= | |
| NM_031433.4:c.*1472G>T (MFRP) MANE Select | NP_113621.1:n.*1472G>T | |
| NM_015645.5:c.576G>T (C1QTNF5) | NP_056460.1:p.Ser192= |