Linked Data
ClinVar Variation Id:
1947493
ClinVar RCV Id:
RCV002654515
gnomAD v4:
11-86952300-G-A
MyVariant Identifiers:
chr11:g.86663342G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86952300G>A , CM000673.2:g.86952300G>A | GRCh38 |
| NC_000011.9:g.86663342G>A , CM000673.1:g.86663342G>A | GRCh37 |
| NC_000011.8:g.86340990G>A | NCBI36 |
| NG_011752.1:g.8092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.456C>T (FZD4) MANE Select | ENSP00000434034.1:p.Asn152= | |
| ENST00000531380.1:c.456C>T (FZD4) | ENSP00000434034.1:p.Asn152= | |
| ENST00000532234.5:c.*1293G>A (PRSS23) | ENSP00000436676.1:n.*1293G>A | |
| ENST00000533902.2:c.*1015G>A (PRSS23) | ENSP00000437268.1:n.*1015G>A | |
| NM_012193.3:c.456C>T (FZD4) | NP_036325.2:p.Asn152= | |
| NR_120591.1:n.1965G>A (PRSS23) | ||
| NR_120592.1:n.1714G>A (PRSS23) | ||
| NR_120591.2:n.1663G>A (PRSS23) | ||
| NR_120592.2:n.1412G>A (PRSS23) | ||
| NM_012193.4:c.456C>T (FZD4) MANE Select | NP_036325.2:p.Asn152= | |
| NR_120591.3:n.1663G>A (PRSS23) |