Linked Data
ClinVar Variation Id:
18459
ClinVar RCV Id:
RCV000018095
dbSNP Id:
rs267606939
ExAC:
20:1961091 G / A
gnomAD v2:
20-1961091-G-A
gnomAD v3:
20-1980445-G-A
gnomAD v4:
20-1980445-G-A
COSMIC:
COSM723491
PubMed:
PMID:21035104
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.1980445G>A , CM000682.2:g.1980445G>A | GRCh38 |
| NC_000020.10:g.1961091G>A , CM000682.1:g.1961091G>A | GRCh37 |
| NC_000020.9:g.1909091G>A | NCBI36 |
| NG_028027.1:g.18801C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217305.3:c.643C>T (PDYN) MANE Select | ENSP00000217305.2:p.Arg215Cys | |
| ENST00000217305.2:c.643C>T (PDYN) | ENSP00000217305.2:p.Arg215Cys | |
| ENST00000539905.5:c.643C>T (PDYN) | ENSP00000440185.1:p.Arg215Cys | |
| ENST00000540134.5:c.643C>T (PDYN) | ENSP00000442259.1:p.Arg215Cys | |
| NM_001190892.1:c.643C>T (PDYN) | NP_001177821.1:p.Arg215Cys | |
| NM_001190898.2:c.643C>T (PDYN) | NP_001177827.1:p.Arg215Cys | |
| NM_001190899.2:c.643C>T (PDYN) | NP_001177828.1:p.Arg215Cys | |
| NM_001190900.1:c.643C>T (PDYN) | NP_001177829.1:p.Arg215Cys | |
| NM_024411.4:c.643C>T (PDYN) | NP_077722.1:p.Arg215Cys | |
| XM_011529244.1:c.643C>T (PDYN) | XP_011527546.1:p.Arg215Cys | |
| XM_011529245.1:c.643C>T (PDYN) | XP_011527547.1:p.Arg215Cys | |
| XM_011529246.1:c.643C>T (PDYN) | XP_011527548.1:p.Arg215Cys | |
| XM_011529247.1:c.643C>T (PDYN) | XP_011527549.1:p.Arg215Cys | |
| XM_011529248.1:c.643C>T (PDYN) | XP_011527550.1:p.Arg215Cys | |
| XM_011529249.1:c.643C>T (PDYN) | XP_011527551.1:p.Arg215Cys | |
| XM_011529250.1:c.643C>T (PDYN) | XP_011527552.1:p.Arg215Cys | |
| XR_244229.1:n.1216+14102G>A (PDYN-AS1) | ||
| NR_134520.1:n.1252+14102G>A (PDYN-AS1) | ||
| XM_011529246.2:c.643C>T (PDYN) | XP_011527548.1:p.Arg215Cys | |
| XM_011529249.2:c.643C>T (PDYN) | XP_011527551.1:p.Arg215Cys | |
| XM_011529250.2:c.643C>T (PDYN) | XP_011527552.1:p.Arg215Cys | |
| XM_017027878.1:c.643C>T (PDYN) | XP_016883367.1:p.Arg215Cys | |
| NM_024411.5:c.643C>T (PDYN) MANE Select | NP_077722.1:p.Arg215Cys | |
| NM_001190898.3:c.643C>T (PDYN) | NP_001177827.1:p.Arg215Cys |