Linked Data
ClinVar Variation Id:
224338
ClinVar RCV Id:
RCV000416577
dbSNP Id:
rs368161524
ExAC:
6:44394370 A / G
gnomAD v2:
6-44394370-A-G
gnomAD v3:
6-44426633-A-G
gnomAD v4:
6-44426633-A-G
PubMed:
PMID:27657687
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44426633A>G , CM000668.2:g.44426633A>G | GRCh38 |
| NC_000006.11:g.44394370A>G , CM000668.1:g.44394370A>G | GRCh37 |
| NC_000006.10:g.44502348A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371477.4:c.1802A>G (CDC5L) MANE Select | ENSP00000360532.3:p.Lys601Arg | |
| ENST00000371477.3:c.1802A>G (CDC5L) | ENSP00000360532.3:p.Lys601Arg | |
| NM_001253.3:c.1802A>G (CDC5L) | NP_001244.1:p.Lys601Arg | |
| XM_006715289.2:c.1802A>G (CDC5L) | XP_006715352.1:p.Lys601Arg | |
| XR_926346.1:n.1934A>G (CDC5L) | ||
| NM_001253.4:c.1802A>G (CDC5L) MANE Select | NP_001244.1:p.Lys601Arg | |
| NM_001318876.2:c.946-15257A>G (POLR1C) | NP_001305805.1:n.946-15257A>G |