Linked Data
ClinVar Variation Id:
1576250
ClinVar RCV Id:
RCV002085285
dbSNP Id:
rs968227540
gnomAD v2:
18-48586220-G-A
gnomAD v3:
18-51059850-G-A
gnomAD v4:
18-51059850-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51059850G>A , CM000680.2:g.51059850G>A | GRCh38 |
| NC_000018.9:g.48586220G>A , CM000680.1:g.48586220G>A | GRCh37 |
| NC_000018.8:g.46840218G>A | NCBI36 |
| NG_013013.2:g.96811G>A , LRG_318:g.96811G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.905-16G>A | ENSP00000465878.2:n.905-16G>A | |
| ENST00000589076.6:c.905-16G>A | ENSP00000466934.2:n.905-16G>A | |
| ENST00000589941.2:c.905-16G>A | ENSP00000465874.2:n.905-16G>A | |
| ENST00000590061.2:c.905-16G>A | ENSP00000464772.2:n.905-16G>A | |
| ENST00000593223.2:c.905-16G>A | ENSP00000466118.2:n.905-16G>A | |
| ENST00000611848.2:c.905-16G>A | ENSP00000478613.2:n.905-16G>A | |
| ENST00000684953.1:n.2277-16G>A | ||
| ENST00000685090.1:n.1340G>A | ||
| ENST00000685232.1:n.1013-16G>A | ||
| ENST00000688307.1:n.156-16G>A | ||
| ENST00000688574.1:n.1013-16G>A | ||
| ENST00000688903.1:n.1119-16G>A | ||
| ENST00000690892.1:n.1013-16G>A | ||
| ENST00000342988.8:c.905-16G>A MANE Select | ENSP00000341551.3:n.905-16G>A | |
| ENST00000342988.7:c.905-16G>A | ENSP00000341551.3:n.905-16G>A | |
| ENST00000398417.6:c.905-16G>A | ENSP00000381452.1:n.905-16G>A | |
| ENST00000588745.5:c.667+4857G>A | ENSP00000464901.1:n.667+4857G>A | |
| ENST00000591126.5:n.2906-16G>A | ||
| ENST00000592186.5:c.905-16G>A | ENSP00000468611.1:n.905-16G>A | |
| ENST00000611848.1:c.105-16G>A | ||
| NM_005359.5:c.905-16G>A , LRG_318t1:c.905-16G>A | NP_005350.1:n.905-16G>A | |
| NM_005359.6:c.905-16G>A MANE Select | NP_005350.1:n.905-16G>A |