Linked Data
ClinVar Variation Id:
1199406
ClinVar RCV Id:
RCV001564039
dbSNP Id:
rs968906940
gnomAD v4:
3-190404780-G-A
COSMIC:
COSM3591290
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404780G>A , CM000665.2:g.190404780G>A | GRCh38 |
| NC_000003.11:g.190122569G>A , CM000665.1:g.190122569G>A | GRCh37 |
| NC_000003.10:g.191605263G>A | NCBI36 |
| NG_008149.1:g.21729G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.236G>A MANE Select | ENSP00000264734.3:p.Arg79Gln | |
| ENST00000456423.2:c.115-5123G>A | ENSP00000414136.2:n.115-5123G>A | |
| ENST00000264734.2:c.446G>A | ENSP00000264734.2:p.Arg149Gln | |
| ENST00000456423.1:c.325-5123G>A | ENSP00000414136.1:n.325-5123G>A | |
| ENST00000468220.1:n.428G>A | ||
| NM_006580.3:c.446G>A | NP_006571.1:p.Arg149Gln | |
| NM_001378492.1:c.236G>A | NP_001365421.1:p.Arg79Gln | |
| NM_001378493.1:c.236G>A | NP_001365422.1:p.Arg79Gln | |
| NM_006580.4:c.236G>A MANE Select | NP_006571.2:p.Arg79Gln |