Linked Data
ClinVar Variation Id:
2820861
ClinVar RCV Id:
RCV003618532
dbSNP Id:
rs2022814781
gnomAD v4:
19-7535591-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7535591C>A , CM000681.2:g.7535591C>A | GRCh38 |
| NC_000019.9:g.7600477C>A , CM000681.1:g.7600477C>A | GRCh37 |
| NC_000019.8:g.7506477C>A | NCBI36 |
| NG_013374.1:g.6440C>A | |
| NG_015806.1:g.17982C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221249.10:c.27+14C>A | ENSP00000221249.5:n.27+14C>A | |
| ENST00000414982.7:c.27+14C>A | ENSP00000407509.2:n.27+14C>A | |
| ENST00000450331.7:c.27+14C>A | ENSP00000394348.2:n.27+14C>A | |
| ENST00000545201.6:c.27+14C>A | ENSP00000443323.1:n.27+14C>A | |
| ENST00000593924.5:c.27+14C>A | ENSP00000469794.1:n.27+14C>A | |
| ENST00000596515.5:c.27+14C>A | ENSP00000470461.1:n.27+14C>A | |
| ENST00000600942.5:c.27+14C>A | ENSP00000472572.1:n.27+14C>A | |
| ENST00000601001.5:c.27+14C>A | ENSP00000472631.1:n.27+14C>A | |
| ENST00000601668.5:c.27+14C>A | ENSP00000470608.1:n.27+14C>A | |
| ENST00000601870.1:c.531+14C>A | ||
| NM_001166111.1:c.27+14C>A | NP_001159583.1:n.27+14C>A | |
| NM_001166112.1:c.27+14C>A | NP_001159584.1:n.27+14C>A | |
| NM_001166113.1:c.27+14C>A | NP_001159585.1:n.27+14C>A | |
| NM_006702.4:c.27+14C>A | NP_006693.3:n.27+14C>A | |
| NM_001166111.2:c.27+14C>A | NP_001159583.1:n.27+14C>A | |
| NM_006702.5:c.27+14C>A | NP_006693.3:n.27+14C>A | |
| NM_001166112.2:c.27+14C>A | NP_001159584.1:n.27+14C>A |