Linked Data
ClinVar Variation Id:
288043
dbSNP Id:
rs138295825
ExAC:
11:119215444 G / A
gnomAD v2:
11-119215444-G-A
gnomAD v3:
11-119344734-G-A
gnomAD v4:
11-119344734-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119344734G>A , CM000673.2:g.119344734G>A | GRCh38 |
| NC_000011.9:g.119215444G>A , CM000673.1:g.119215444G>A | GRCh37 |
| NC_000011.8:g.118720654G>A | NCBI36 |
| NG_012235.1:g.6940C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619721.6:c.796C>T (MFRP) MANE Select | ENSP00000481824.1:p.Arg266Cys | |
| ENST00000360167.4:c.796C>T (MFRP) | ENSP00000353291.4:p.Arg266Cys | |
| ENST00000529147.2:n.759C>T (MFRP) | ||
| ENST00000619721.5:c.796C>T (MFRP) | ENSP00000481824.1:p.Arg266Cys | |
| NM_015645.4:c.-1841C>T (C1QTNF5) | NP_056460.1:n.-1841C>T | |
| NM_031433.3:c.796C>T (MFRP) | NP_113621.1:p.Arg266Cys | |
| NM_031433.4:c.796C>T (MFRP) MANE Select | NP_113621.1:p.Arg266Cys | |
| NM_015645.5:c.-1841C>T (C1QTNF5) | NP_056460.1:n.-1841C>T |