Linked Data
ClinVar Variation Id:
440704
ClinVar RCV Id:
RCV000508759
dbSNP Id:
rs1553135350
gnomAD v4:
1-55039670-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039670C>A , CM000663.2:g.55039670C>A | GRCh38 |
| NC_000001.10:g.55505343C>A , CM000663.1:g.55505343C>A | GRCh37 |
| NC_000001.9:g.55277931C>A | NCBI36 |
| NG_009061.1:g.5124C>A , LRG_275:g.5124C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673913.2:c.-168C>A | ENSP00000501161.2:n.-168C>A | |
| ENST00000710286.1:c.190C>A | ENSP00000518176.1:p.Arg64= | |
| ENST00000673726.1:c.-168C>A | ENSP00000501004.1:n.-168C>A | |
| ENST00000302118.5:c.-168C>A MANE Select | ENSP00000303208.5:n.-168C>A | |
| NM_174936.3:c.-168C>A , LRG_275t1:c.-168C>A | NP_777596.2:n.-168C>A | |
| NM_174936.4:c.-168C>A MANE Select | NP_777596.2:n.-168C>A |