Linked Data
ClinVar Variation Id:
1369497
ClinVar RCV Id:
RCV001870664
dbSNP Id:
rs1447464669
gnomAD v2:
11-119210088-C-T
gnomAD v4:
11-119339378-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119339378C>T , CM000673.2:g.119339378C>T | GRCh38 |
| NC_000011.9:g.119210088C>T , CM000673.1:g.119210088C>T | GRCh37 |
| NC_000011.8:g.118715298C>T | NCBI36 |
| NG_012235.1:g.12296G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528368.3:c.685G>A (C1QTNF5) MANE Select | ENSP00000431140.1:p.Gly229Arg | |
| ENST00000619721.6:c.*1581G>A (MFRP) MANE Select | ENSP00000481824.1:n.*1581G>A | |
| ENST00000525657.2:n.575G>A (C1QTNF5) | ||
| ENST00000528368.2:c.685G>A (C1QTNF5) | ENSP00000431140.1:p.Gly229Arg | |
| ENST00000530681.2:c.685G>A (C1QTNF5) | ENSP00000456533.2:p.Gly229Arg | |
| ENST00000619721.5:c.*1581G>A (MFRP) | ENSP00000481824.1:n.*1581G>A | |
| NM_001278431.1:c.685G>A (C1QTNF5) | NP_001265360.1:p.Gly229Arg | |
| NM_015645.4:c.685G>A (C1QTNF5) | NP_056460.1:p.Gly229Arg | |
| NM_031433.3:c.*1581G>A (MFRP) | NP_113621.1:n.*1581G>A | |
| NM_001278431.2:c.685G>A (C1QTNF5) MANE Select | NP_001265360.1:p.Gly229Arg | |
| NM_031433.4:c.*1581G>A (MFRP) MANE Select | NP_113621.1:n.*1581G>A | |
| NM_015645.5:c.685G>A (C1QTNF5) | NP_056460.1:p.Gly229Arg |