Linked Data
ClinVar Variation Id:
2504519
ClinVar RCV Id:
RCV003231980
dbSNP Id:
rs1165509211
gnomAD v3:
11-119341753-C-T
gnomAD v4:
11-119341753-C-T
COSMIC:
COSM3687126
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119341753C>T , CM000673.2:g.119341753C>T | GRCh38 |
| NC_000011.9:g.119212463C>T , CM000673.1:g.119212463C>T | GRCh37 |
| NC_000011.8:g.118717673C>T | NCBI36 |
| NG_012235.1:g.9921G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619721.6:c.1535G>A (MFRP) MANE Select | ENSP00000481824.1:p.Cys512Tyr | |
| ENST00000360167.4:c.1181G>A (MFRP) | ENSP00000353291.4:p.Cys394Tyr | |
| ENST00000449574.7:c.406G>A (MFRP) | ||
| ENST00000619721.5:c.1535G>A (MFRP) | ENSP00000481824.1:p.Cys512Tyr | |
| NM_015645.4:c.-1102G>A (C1QTNF5) | NP_056460.1:n.-1102G>A | |
| NM_031433.3:c.1535G>A (MFRP) | NP_113621.1:p.Cys512Tyr | |
| NM_031433.4:c.1535G>A (MFRP) MANE Select | NP_113621.1:p.Cys512Tyr | |
| NM_015645.5:c.-1102G>A (C1QTNF5) | NP_056460.1:n.-1102G>A |