Linked Data
ClinVar Variation Id:
2458637
ClinVar RCV Id:
RCV004248908
dbSNP Id:
rs181339224
ExAC:
1:152129244 A / G
gnomAD v2:
1-152129244-A-G
gnomAD v3:
1-152156768-A-G
gnomAD v4:
1-152156768-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152156768A>G , CM000663.2:g.152156768A>G | GRCh38 |
| NC_000001.10:g.152129244A>G , CM000663.1:g.152129244A>G | GRCh37 |
| NC_000001.9:g.150395868A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316073.3:c.331T>C (RPTN) MANE Select | ENSP00000317895.3:p.Cys111Arg | |
| ENST00000628080.1:n.48-32063T>C (PUDPP2) | ||
| NM_001122965.1:c.331T>C (RPTN) MANE Select | NP_001116437.1:p.Cys111Arg |