Linked Data
ClinVar Variation Id:
1107304
ClinVar RCV Id:
RCV001432372
dbSNP Id:
rs376439753
ExAC:
17:7919041 G / A
gnomAD v2:
17-7919041-G-A
gnomAD v3:
17-8015723-G-A
gnomAD v4:
17-8015723-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015723G>A , CM000679.2:g.8015723G>A | GRCh38 |
| NC_000017.10:g.7919041G>A , CM000679.1:g.7919041G>A | GRCh37 |
| NC_000017.9:g.7859766G>A | NCBI36 |
| NG_009092.1:g.18054G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2945-20G>A MANE Select | ENSP00000254854.4:n.2945-20G>A | |
| ENST00000254854.4:c.2945-20G>A | ENSP00000254854.4:n.2945-20G>A | |
| NM_000180.3:c.2945-20G>A | NP_000171.1:n.2945-20G>A | |
| XM_011523816.1:c.2945-20G>A | XP_011522118.1:n.2945-20G>A | |
| NM_000180.4:c.2945-20G>A MANE Select | NP_000171.1:n.2945-20G>A |