Linked Data
ClinVar Variation Id:
140615
ClinVar RCV Id:
RCV000128831
dbSNP Id:
rs775146234
ExAC:
19:1105813 G / A
gnomAD v2:
19-1105813-G-A
gnomAD v3:
19-1105814-G-A
gnomAD v4:
19-1105814-G-A
PubMed:
PMID:24706940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1105814G>A , CM000681.2:g.1105814G>A | GRCh38 |
| NC_000019.9:g.1105813G>A , CM000681.1:g.1105813G>A | GRCh37 |
| NC_000019.8:g.1056813G>A | NCBI36 |
| NG_050621.1:g.6889G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585362.7:c.587+5G>A | ENSP00000473614.3:n.587+5G>A | |
| ENST00000593032.6:c.395+5G>A | ENSP00000465828.4:n.395+5G>A | |
| ENST00000706713.1:c.470+5G>A | ENSP00000516510.1:n.470+5G>A | |
| ENST00000706714.1:c.395+5G>A | ENSP00000516511.1:n.395+5G>A | |
| ENST00000706715.1:c.92+5G>A | ENSP00000516512.1:n.92+5G>A | |
| ENST00000354171.13:c.476+5G>A MANE Select | ENSP00000346103.7:n.476+5G>A | |
| ENST00000589115.6:c.476+5G>A | ENSP00000466872.3:n.476+5G>A | |
| ENST00000354171.12:c.476+5G>A | ENSP00000346103.7:n.476+5G>A | |
| ENST00000585480.1:c.209+5G>A | ENSP00000467900.1:n.209+5G>A | |
| ENST00000587648.5:c.356+5G>A | ENSP00000468349.1:n.356+5G>A | |
| ENST00000588919.5:c.395+5G>A | ENSP00000464989.3:n.395+5G>A | |
| ENST00000589115.5:c.476+5G>A | ENSP00000466872.2:n.476+5G>A | |
| ENST00000592940.2:n.420G>A | ||
| ENST00000593032.5:c.395+5G>A | ENSP00000465828.3:n.395+5G>A | |
| ENST00000611653.4:c.395+5G>A | ENSP00000483655.1:n.395+5G>A | |
| ENST00000616066.4:c.473+5G>A | ENSP00000485000.1:n.473+5G>A | |
| ENST00000622390.4:c.584+5G>A | ENSP00000477503.1:n.584+5G>A | |
| NM_001039847.2:c.476+5G>A | NP_001034936.1:n.476+5G>A | |
| NM_001039848.2:c.587+5G>A | NP_001034937.1:n.587+5G>A | |
| NM_002085.4:c.476+5G>A | NP_002076.2:n.476+5G>A | |
| NM_001039848.3:c.587+5G>A | NP_001034937.1:n.587+5G>A | |
| NM_001039847.3:c.476+5G>A | NP_001034936.1:n.476+5G>A | |
| NM_001039848.4:c.587+5G>A | NP_001034937.1:n.587+5G>A | |
| NM_001367832.1:c.395+5G>A | NP_001354761.1:n.395+5G>A | |
| NM_002085.5:c.476+5G>A MANE Select | NP_002076.2:n.476+5G>A |