Linked Data
ClinVar Variation Id:
2990450
ClinVar RCV Id:
RCV003845145
dbSNP Id:
rs368456883
ExAC:
3:87311405 A / C
gnomAD v2:
3-87311405-A-C
gnomAD v3:
3-87262255-A-C
gnomAD v4:
3-87262255-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87262255A>C , CM000665.2:g.87262255A>C | GRCh38 |
| NC_000003.11:g.87311405A>C , CM000665.1:g.87311405A>C | GRCh37 |
| NC_000003.10:g.87394095A>C | NCBI36 |
| NG_008225.2:g.19333T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344265.8:c.518-20T>G | ENSP00000342931.3:n.518-20T>G | |
| ENST00000350375.7:c.440-20T>G MANE Select | ENSP00000263781.2:n.440-20T>G | |
| ENST00000344265.7:c.518-20T>G | ENSP00000342931.3:n.518-20T>G | |
| ENST00000350375.6:c.440-20T>G | ENSP00000263781.2:n.440-20T>G | |
| ENST00000560656.1:c.439+2033T>G | ENSP00000452610.1:n.439+2033T>G | |
| ENST00000561167.5:c.215-20T>G | ENSP00000454072.1:n.215-20T>G | |
| NM_000306.3:c.440-20T>G | NP_000297.1:n.440-20T>G | |
| NM_001122757.2:c.518-20T>G | NP_001116229.1:n.518-20T>G | |
| NM_000306.4:c.440-20T>G MANE Select | NP_000297.1:n.440-20T>G | |
| NM_001122757.3:c.518-20T>G | NP_001116229.1:n.518-20T>G |