Linked Data
ClinVar Variation Id:
155875
ClinVar RCV Id:
RCV000143992
dbSNP Id:
rs9383589
gnomAD v2:
6-151940260-A-G
gnomAD v3:
6-151619125-A-G
gnomAD v4:
6-151619125-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151619125A>G , CM000668.2:g.151619125A>G | GRCh38 |
| NC_000006.11:g.151940260A>G , CM000668.1:g.151940260A>G | GRCh37 |
| NC_000006.10:g.151981953A>G | NCBI36 |
| NG_021198.1:g.130086A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.*978A>G MANE Select | ENSP00000239374.6:n.*978A>G | |
| ENST00000239374.7:c.*978A>G | ENSP00000239374.6:n.*978A>G | |
| NM_025059.3:c.*978A>G | NP_079335.2:n.*978A>G | |
| XM_011536147.1:c.*978A>G | XP_011534449.1:n.*978A>G | |
| XM_011536148.1:c.*978A>G | XP_011534450.1:n.*978A>G | |
| XM_011536147.2:c.*978A>G | XP_011534449.1:n.*978A>G | |
| XM_011536148.2:c.*978A>G | XP_011534450.1:n.*978A>G | |
| NM_025059.4:c.*978A>G MANE Select | NP_079335.2:n.*978A>G |