Linked Data
ClinVar Variation Id:
196562
dbSNP Id:
rs139436396
ExAC:
11:119216867 G / C
gnomAD v2:
11-119216867-G-C
gnomAD v3:
11-119346157-G-C
gnomAD v4:
11-119346157-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119346157G>C , CM000673.2:g.119346157G>C | GRCh38 |
| NC_000011.9:g.119216867G>C , CM000673.1:g.119216867G>C | GRCh37 |
| NC_000011.8:g.118722077G>C | NCBI36 |
| NG_012235.1:g.5517C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619721.6:c.160C>G (MFRP) MANE Select | ENSP00000481824.1:p.Arg54Gly | |
| ENST00000360167.4:c.160C>G (MFRP) | ENSP00000353291.4:p.Arg54Gly | |
| ENST00000526059.1:n.318C>G (MFRP) | ||
| ENST00000529147.2:n.123C>G (MFRP) | ||
| ENST00000619721.5:c.160C>G (MFRP) | ENSP00000481824.1:p.Arg54Gly | |
| ENST00000634542.1:c.57C>G (MFRP) | ENSP00000488979.1:p.Val19= | |
| NM_015645.4:c.-2477C>G (C1QTNF5) | NP_056460.1:n.-2477C>G | |
| NM_031433.3:c.160C>G (MFRP) | NP_113621.1:p.Arg54Gly | |
| NM_031433.4:c.160C>G (MFRP) MANE Select | NP_113621.1:p.Arg54Gly | |
| NM_015645.5:c.-2477C>G (C1QTNF5) | NP_056460.1:n.-2477C>G |