Linked Data
ClinVar Variation Id:
388624
ClinVar RCV Id:
RCV000428480
dbSNP Id:
rs1012501055
gnomAD v3:
18-51030618-G-A
gnomAD v4:
18-51030618-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51030618G>A , CM000680.2:g.51030618G>A | GRCh38 |
| NC_000018.9:g.48556988G>A , CM000680.1:g.48556988G>A | GRCh37 |
| NC_000018.8:g.46810986G>A | NCBI36 |
| NG_013013.2:g.67579G>A , LRG_318:g.67579G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.-128+1953G>A | ENSP00000465878.2:n.-128+1953G>A | |
| ENST00000589076.6:c.-128+342G>A | ENSP00000466934.2:n.-128+342G>A | |
| ENST00000589941.2:c.-298G>A | ENSP00000465874.2:n.-298G>A | |
| ENST00000590061.2:c.-60+342G>A | ENSP00000464772.2:n.-60+342G>A | |
| ENST00000593223.2:c.-133G>A | ENSP00000466118.2:n.-133G>A | |
| ENST00000342988.8:c.-133G>A MANE Select | ENSP00000341551.3:n.-133G>A | |
| ENST00000342988.7:c.-133G>A | ENSP00000341551.3:n.-133G>A | |
| ENST00000398417.6:c.-128+874G>A | ENSP00000381452.1:n.-128+874G>A | |
| ENST00000588256.1:n.335-16302G>A | ||
| ENST00000588860.5:c.-128+1953G>A | ENSP00000465878.1:n.-128+1953G>A | |
| ENST00000589076.5:c.-128+342G>A | ENSP00000466934.1:n.-128+342G>A | |
| ENST00000590061.1:c.-60+342G>A | ENSP00000464772.1:n.-60+342G>A | |
| ENST00000590722.2:c.158-16302G>A | ENSP00000465737.1:n.158-16302G>A | |
| ENST00000591914.5:c.-133G>A | ENSP00000466941.1:n.-133G>A | |
| ENST00000592911.5:n.22G>A | ||
| NM_005359.5:c.-133G>A , LRG_318t1:c.-133G>A | NP_005350.1:n.-133G>A | |
| NM_005359.6:c.-133G>A MANE Select | NP_005350.1:n.-133G>A |