Linked Data
ClinVar Variation Id:
392894
ClinVar RCV Id:
RCV000437409
dbSNP Id:
rs1057524686
gnomAD v2:
18-48556986-G-A
gnomAD v3:
18-51030616-G-A
gnomAD v4:
18-51030616-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51030616G>A , CM000680.2:g.51030616G>A | GRCh38 |
| NC_000018.9:g.48556986G>A , CM000680.1:g.48556986G>A | GRCh37 |
| NC_000018.8:g.46810984G>A | NCBI36 |
| NG_013013.2:g.67577G>A , LRG_318:g.67577G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.-128+1951G>A | ENSP00000465878.2:n.-128+1951G>A | |
| ENST00000589076.6:c.-128+340G>A | ENSP00000466934.2:n.-128+340G>A | |
| ENST00000589941.2:c.-300G>A | ENSP00000465874.2:n.-300G>A | |
| ENST00000590061.2:c.-60+340G>A | ENSP00000464772.2:n.-60+340G>A | |
| ENST00000593223.2:c.-135G>A | ENSP00000466118.2:n.-135G>A | |
| ENST00000342988.8:c.-135G>A MANE Select | ENSP00000341551.3:n.-135G>A | |
| ENST00000342988.7:c.-135G>A | ENSP00000341551.3:n.-135G>A | |
| ENST00000398417.6:c.-128+872G>A | ENSP00000381452.1:n.-128+872G>A | |
| ENST00000588256.1:n.335-16304G>A | ||
| ENST00000588860.5:c.-128+1951G>A | ENSP00000465878.1:n.-128+1951G>A | |
| ENST00000589076.5:c.-128+340G>A | ENSP00000466934.1:n.-128+340G>A | |
| ENST00000590061.1:c.-60+340G>A | ENSP00000464772.1:n.-60+340G>A | |
| ENST00000590722.2:c.158-16304G>A | ENSP00000465737.1:n.158-16304G>A | |
| ENST00000591914.5:c.-135G>A | ENSP00000466941.1:n.-135G>A | |
| ENST00000592911.5:n.20G>A | ||
| NM_005359.5:c.-135G>A , LRG_318t1:c.-135G>A | NP_005350.1:n.-135G>A | |
| NM_005359.6:c.-135G>A MANE Select | NP_005350.1:n.-135G>A |