Linked Data
ClinVar Variation Id:
302972
dbSNP Id:
rs200291895
ExAC:
11:119216319 G / T
gnomAD v2:
11-119216319-G-T
gnomAD v3:
11-119345609-G-T
gnomAD v4:
11-119345609-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119345609G>T , CM000673.2:g.119345609G>T | GRCh38 |
| NC_000011.9:g.119216319G>T , CM000673.1:g.119216319G>T | GRCh37 |
| NC_000011.8:g.118721529G>T | NCBI36 |
| NG_012235.1:g.6065C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619721.6:c.452C>A (MFRP) MANE Select | ENSP00000481824.1:p.Pro151Gln | |
| ENST00000360167.4:c.452C>A (MFRP) | ENSP00000353291.4:p.Pro151Gln | |
| ENST00000529147.2:n.415C>A (MFRP) | ||
| ENST00000619721.5:c.452C>A (MFRP) | ENSP00000481824.1:p.Pro151Gln | |
| ENST00000634542.1:c.*43C>A (MFRP) | ENSP00000488979.1:n.*43C>A | |
| NM_015645.4:c.-2185C>A (C1QTNF5) | NP_056460.1:n.-2185C>A | |
| NM_031433.3:c.452C>A (MFRP) | NP_113621.1:p.Pro151Gln | |
| NM_031433.4:c.452C>A (MFRP) MANE Select | NP_113621.1:p.Pro151Gln | |
| NM_015645.5:c.-2185C>A (C1QTNF5) | NP_056460.1:n.-2185C>A |