Linked Data
ClinVar Variation Id:
183045
dbSNP Id:
rs150232843
ExAC:
11:119216826 C / T
gnomAD v2:
11-119216826-C-T
gnomAD v3:
11-119346116-C-T
gnomAD v4:
11-119346116-C-T
PubMed:
PMID:20361016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119346116C>T , CM000673.2:g.119346116C>T | GRCh38 |
| NC_000011.9:g.119216826C>T , CM000673.1:g.119216826C>T | GRCh37 |
| NC_000011.8:g.118722036C>T | NCBI36 |
| NG_012235.1:g.5558G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619721.6:c.201G>A (MFRP) MANE Select | ENSP00000481824.1:p.Trp67Ter | |
| ENST00000360167.4:c.201G>A (MFRP) | ENSP00000353291.4:p.Trp67Ter | |
| ENST00000526059.1:n.359G>A (MFRP) | ||
| ENST00000529147.2:n.164G>A (MFRP) | ||
| ENST00000619721.5:c.201G>A (MFRP) | ENSP00000481824.1:p.Trp67Ter | |
| ENST00000634542.1:c.98G>A (MFRP) | ENSP00000488979.1:p.Gly33Asp | |
| NM_015645.4:c.-2436G>A (C1QTNF5) | NP_056460.1:n.-2436G>A | |
| NM_031433.3:c.201G>A (MFRP) | NP_113621.1:p.Trp67Ter | |
| NM_031433.4:c.201G>A (MFRP) MANE Select | NP_113621.1:p.Trp67Ter | |
| NM_015645.5:c.-2436G>A (C1QTNF5) | NP_056460.1:n.-2436G>A |