Linked Data
ClinVar Variation Id:
704516
ClinVar RCV Id:
RCV000874575
dbSNP Id:
rs7538876
gnomAD v2:
1-17722363-G-A
gnomAD v3:
1-17395867-G-A
gnomAD v4:
1-17395867-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17395867G>A , CM000663.2:g.17395867G>A | GRCh38 |
| NC_000001.10:g.17722363G>A , CM000663.1:g.17722363G>A | GRCh37 |
| NC_000001.9:g.17594950G>A | NCBI36 |
| NG_032943.1:g.28622G>A | |
| NG_032943.2:g.28622G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619609.1:c.1618+204G>A MANE Select | ENSP00000483125.1:n.1618+204G>A | |
| NM_207421.4:c.1618+204G>A MANE Select | NP_997304.3:n.1618+204G>A |