Linked Data
dbSNP Id:
rs1950505041
gnomAD v3:
11-119341760-G-A
gnomAD v4:
11-119341760-G-A
MyVariant Identifiers:
chr11:g.119212470G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119341760G>A , CM000673.2:g.119341760G>A | GRCh38 |
| NC_000011.9:g.119212470G>A , CM000673.1:g.119212470G>A | GRCh37 |
| NC_000011.8:g.118717680G>A | NCBI36 |
| NG_012235.1:g.9914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619721.6:c.1528C>T (MFRP) MANE Select | ENSP00000481824.1:p.Leu510= | |
| ENST00000360167.4:c.1174C>T (MFRP) | ENSP00000353291.4:p.Leu392= | |
| ENST00000449574.7:c.399C>T (MFRP) | ||
| ENST00000619721.5:c.1528C>T (MFRP) | ENSP00000481824.1:p.Leu510= | |
| NM_015645.4:c.-1109C>T (C1QTNF5) | NP_056460.1:n.-1109C>T | |
| NM_031433.3:c.1528C>T (MFRP) | NP_113621.1:p.Leu510= | |
| NM_031433.4:c.1528C>T (MFRP) MANE Select | NP_113621.1:p.Leu510= | |
| NM_015645.5:c.-1109C>T (C1QTNF5) | NP_056460.1:n.-1109C>T |