Linked Data
ClinVar Variation Id:
2023479
ClinVar RCV Id:
RCV002857980
MyVariant Identifiers:
chr11:g.86662625C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86951583C>T , CM000673.2:g.86951583C>T | GRCh38 |
| NC_000011.9:g.86662625C>T , CM000673.1:g.86662625C>T | GRCh37 |
| NC_000011.8:g.86340273C>T | NCBI36 |
| NG_011752.1:g.8809G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.1173G>A (FZD4) MANE Select | ENSP00000434034.1:p.Val391= | |
| ENST00000531380.1:c.1173G>A (FZD4) | ENSP00000434034.1:p.Val391= | |
| ENST00000531521.1:n.754C>T (PRSS23) | ||
| ENST00000532234.5:c.*576C>T (PRSS23) | ENSP00000436676.1:n.*576C>T | |
| ENST00000533902.2:c.*298C>T (PRSS23) | ENSP00000437268.1:n.*298C>T | |
| NM_012193.3:c.1173G>A (FZD4) | NP_036325.2:p.Val391= | |
| NR_120591.1:n.1248C>T (PRSS23) | ||
| NR_120592.1:n.997C>T (PRSS23) | ||
| NR_120591.2:n.946C>T (PRSS23) | ||
| NR_120592.2:n.695C>T (PRSS23) | ||
| NM_012193.4:c.1173G>A (FZD4) MANE Select | NP_036325.2:p.Val391= | |
| NR_120591.3:n.946C>T (PRSS23) |