Linked Data
ClinVar Variation Id:
4475
ClinVar RCV Id:
RCV001332642
dbSNP Id:
rs121908189
ExAC:
11:119216248 G / A
gnomAD v2:
11-119216248-G-A
gnomAD v3:
11-119345538-G-A
gnomAD v4:
11-119345538-G-A
PubMed:
PMID:15976030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119345538G>A , CM000673.2:g.119345538G>A | GRCh38 |
| NC_000011.9:g.119216248G>A , CM000673.1:g.119216248G>A | GRCh37 |
| NC_000011.8:g.118721458G>A | NCBI36 |
| NG_012235.1:g.6136C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619721.6:c.523C>T (MFRP) MANE Select | ENSP00000481824.1:p.Gln175Ter | |
| ENST00000360167.4:c.523C>T (MFRP) | ENSP00000353291.4:p.Gln175Ter | |
| ENST00000529147.2:n.486C>T (MFRP) | ||
| ENST00000619721.5:c.523C>T (MFRP) | ENSP00000481824.1:p.Gln175Ter | |
| ENST00000634542.1:c.*114C>T (MFRP) | ENSP00000488979.1:n.*114C>T | |
| NM_015645.4:c.-2114C>T (C1QTNF5) | NP_056460.1:n.-2114C>T | |
| NM_031433.3:c.523C>T (MFRP) | NP_113621.1:p.Gln175Ter | |
| NM_031433.4:c.523C>T (MFRP) MANE Select | NP_113621.1:p.Gln175Ter | |
| NM_015645.5:c.-2114C>T (C1QTNF5) | NP_056460.1:n.-2114C>T |