Linked Data
ClinVar Variation Id:
302978
dbSNP Id:
rs149376662
ExAC:
11:119216836 C / T
gnomAD v2:
11-119216836-C-T
gnomAD v3:
11-119346126-C-T
gnomAD v4:
11-119346126-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119346126C>T , CM000673.2:g.119346126C>T | GRCh38 |
| NC_000011.9:g.119216836C>T , CM000673.1:g.119216836C>T | GRCh37 |
| NC_000011.8:g.118722046C>T | NCBI36 |
| NG_012235.1:g.5548G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619721.6:c.191G>A (MFRP) MANE Select | ENSP00000481824.1:p.Arg64His | |
| ENST00000360167.4:c.191G>A (MFRP) | ENSP00000353291.4:p.Arg64His | |
| ENST00000526059.1:n.349G>A (MFRP) | ||
| ENST00000529147.2:n.154G>A (MFRP) | ||
| ENST00000619721.5:c.191G>A (MFRP) | ENSP00000481824.1:p.Arg64His | |
| ENST00000634542.1:c.88G>A (MFRP) | ENSP00000488979.1:p.Ala30Thr | |
| NM_015645.4:c.-2446G>A (C1QTNF5) | NP_056460.1:n.-2446G>A | |
| NM_031433.3:c.191G>A (MFRP) | NP_113621.1:p.Arg64His | |
| NM_031433.4:c.191G>A (MFRP) MANE Select | NP_113621.1:p.Arg64His | |
| NM_015645.5:c.-2446G>A (C1QTNF5) | NP_056460.1:n.-2446G>A |