Linked Data
dbSNP Id:
rs746470330
ExAC:
11:86662541 A / G
gnomAD v2:
11-86662541-A-G
gnomAD v4:
11-86951499-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86951499A>G , CM000673.2:g.86951499A>G | GRCh38 |
| NC_000011.9:g.86662541A>G , CM000673.1:g.86662541A>G | GRCh37 |
| NC_000011.8:g.86340189A>G | NCBI36 |
| NG_011752.1:g.8893T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.1257T>C (FZD4) MANE Select | ENSP00000434034.1:p.Asn419= | |
| ENST00000531380.1:c.1257T>C (FZD4) | ENSP00000434034.1:p.Asn419= | |
| ENST00000531521.1:n.670A>G (PRSS23) | ||
| ENST00000532234.5:c.*492A>G (PRSS23) | ENSP00000436676.1:n.*492A>G | |
| ENST00000533902.2:c.*214A>G (PRSS23) | ENSP00000437268.1:n.*214A>G | |
| NM_012193.3:c.1257T>C (FZD4) | NP_036325.2:p.Asn419= | |
| NR_120591.1:n.1164A>G (PRSS23) | ||
| NR_120592.1:n.913A>G (PRSS23) | ||
| NR_120591.2:n.862A>G (PRSS23) | ||
| NR_120592.2:n.611A>G (PRSS23) | ||
| NM_012193.4:c.1257T>C (FZD4) MANE Select | NP_036325.2:p.Asn419= | |
| NR_120591.3:n.862A>G (PRSS23) |