Linked Data
ClinVar Variation Id:
2039517
ClinVar RCV Id:
RCV002899952
dbSNP Id:
rs117131055
ExAC:
19:12780204 T / C
gnomAD v2:
19-12780204-T-C
gnomAD v3:
19-12669390-T-C
gnomAD v4:
19-12669390-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12669390T>C , CM000681.2:g.12669390T>C | GRCh38 |
| NC_000019.9:g.12780204T>C , CM000681.1:g.12780204T>C | GRCh37 |
| NC_000019.8:g.12641204T>C | NCBI36 |
| NG_008318.1:g.2388A>G | |
| NG_015814.1:g.7587T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418543.8:c.-36-365T>C (WDR83) MANE Select | ENSP00000402653.3:n.-36-365T>C | |
| ENST00000596731.7:c.14A>G (WDR83OS) MANE Select | ENSP00000468969.1:p.Asn5Ser | |
| ENST00000648033.1:c.*3948A>G | ENSP00000498000.1:n.*3948A>G | |
| ENST00000222190.9:c.14A>G (WDR83OS) | ENSP00000222190.5:p.Asn5Ser | |
| ENST00000418543.7:c.-36-365T>C (WDR83) | ENSP00000402653.3:n.-36-365T>C | |
| ENST00000546754.5:n.312-365T>C (WDR83) | ||
| ENST00000548381.5:c.-36-365T>C (WDR83) | ENSP00000448722.1:n.-36-365T>C | |
| ENST00000553179.5:c.-36-365T>C (WDR83) | ENSP00000450416.1:n.-36-365T>C | |
| ENST00000596731.5:c.14A>G (WDR83OS) | ENSP00000468969.1:p.Asn5Ser | |
| ENST00000597961.1:c.8A>G | ENSP00000472710.1:p.Asn3Ser | |
| ENST00000598732.1:c.12A>G (WDR83OS) | ||
| NM_001099737.2:c.-36-365T>C (WDR83) | NP_001093207.1:n.-36-365T>C | |
| NM_016145.3:c.14A>G (WDR83OS) | NP_057229.1:p.Asn5Ser | |
| NR_029375.1:n.310-365T>C (WDR83) | ||
| XM_011528358.1:c.-250-365T>C (WDR83) | XP_011526660.1:n.-250-365T>C | |
| XM_017026864.1:c.14A>G (WDR83OS) | XP_016882353.1:p.Asn5Ser | |
| NM_001099737.3:c.-36-365T>C (WDR83) MANE Select | NP_001093207.1:n.-36-365T>C | |
| NM_016145.4:c.14A>G (WDR83OS) MANE Select | NP_057229.1:p.Asn5Ser | |
| NR_029375.2:n.307-365T>C (WDR83) |