Linked Data
ClinVar Variation Id:
197357
dbSNP Id:
rs4639950
ExAC:
11:119216555 T / C
gnomAD v2:
11-119216555-T-C
gnomAD v3:
11-119345845-T-C
gnomAD v4:
11-119345845-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119345845T>C , CM000673.2:g.119345845T>C | GRCh38 |
| NC_000011.9:g.119216555T>C , CM000673.1:g.119216555T>C | GRCh37 |
| NC_000011.8:g.118721765T>C | NCBI36 |
| NG_012235.1:g.5829A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619721.6:c.355A>G (MFRP) MANE Select | ENSP00000481824.1:p.Ile119Val | |
| ENST00000360167.4:c.355A>G (MFRP) | ENSP00000353291.4:p.Ile119Val | |
| ENST00000526059.1:n.513A>G (MFRP) | ||
| ENST00000529147.2:n.318A>G (MFRP) | ||
| ENST00000619721.5:c.355A>G (MFRP) | ENSP00000481824.1:p.Ile119Val | |
| ENST00000634542.1:c.252A>G (MFRP) | ENSP00000488979.1:p.Pro84= | |
| NM_015645.4:c.-2282A>G (C1QTNF5) | NP_056460.1:n.-2282A>G | |
| NM_031433.3:c.355A>G (MFRP) | NP_113621.1:p.Ile119Val | |
| NM_031433.4:c.355A>G (MFRP) MANE Select | NP_113621.1:p.Ile119Val | |
| NM_015645.5:c.-2282A>G (C1QTNF5) | NP_056460.1:n.-2282A>G |