Linked Data
ClinVar Variation Id:
16796
ClinVar RCV Id:
RCV000018287
dbSNP Id:
rs104894177
ExAC:
10:72643778 A / G
gnomAD v2:
10-72643778-A-G
gnomAD v4:
10-70884021-A-G
PubMed:
PMID:8352282
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70884021A>G , CM000672.2:g.70884021A>G | GRCh38 |
| NC_000010.10:g.72643778A>G , CM000672.1:g.72643778A>G | GRCh37 |
| NC_000010.9:g.72313784A>G | NCBI36 |
| NG_008646.1:g.9764T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697988.1:c.571-9738A>G (SGPL1) | ENSP00000513492.1:n.571-9738A>G | |
| ENST00000299299.4:c.244T>C (PCBD1) MANE Select | ENSP00000299299.3:p.Cys82Arg | |
| ENST00000299299.3:c.244T>C (PCBD1) | ENSP00000299299.3:p.Cys82Arg | |
| ENST00000493228.1:n.643T>C (PCBD1) | ||
| ENST00000493961.5:n.183+1131T>C (PCBD1) | ||
| NM_000281.3:c.244T>C (PCBD1) | NP_000272.1:p.Cys82Arg | |
| NM_001289797.1:c.97T>C (PCBD1) | NP_001276726.1:p.Cys33Arg | |
| XM_005269877.1:c.216+1131T>C (PCBD1) | XP_005269934.1:n.216+1131T>C | |
| NM_001323004.1:c.216+1131T>C (PCBD1) | NP_001309933.1:n.216+1131T>C | |
| NM_000281.4:c.244T>C (PCBD1) MANE Select | NP_000272.1:p.Cys82Arg | |
| NM_001289797.2:c.97T>C (PCBD1) | NP_001276726.1:p.Cys33Arg | |
| NM_001323004.2:c.216+1131T>C (PCBD1) | NP_001309933.1:n.216+1131T>C |