Revel Score:
ENST00000531380 (MANE Select)
0.484
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86952215A>G , CM000673.2:g.86952215A>G | GRCh38 |
| NC_000011.9:g.86663257A>G , CM000673.1:g.86663257A>G | GRCh37 |
| NC_000011.8:g.86340905A>G | NCBI36 |
| NG_011752.1:g.8177T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.541T>C (FZD4) MANE Select | ENSP00000434034.1:p.Cys181Arg | |
| ENST00000531380.1:c.541T>C (FZD4) | ENSP00000434034.1:p.Cys181Arg | |
| ENST00000532234.5:c.*1208A>G (PRSS23) | ENSP00000436676.1:n.*1208A>G | |
| ENST00000533902.2:c.*930A>G (PRSS23) | ENSP00000437268.1:n.*930A>G | |
| NM_012193.3:c.541T>C (FZD4) | NP_036325.2:p.Cys181Arg | |
| NR_120591.1:n.1880A>G (PRSS23) | ||
| NR_120592.1:n.1629A>G (PRSS23) | ||
| NR_120591.2:n.1578A>G (PRSS23) | ||
| NR_120592.2:n.1327A>G (PRSS23) | ||
| NM_012193.4:c.541T>C (FZD4) MANE Select | NP_036325.2:p.Cys181Arg | |
| NR_120591.3:n.1578A>G (PRSS23) |