Linked Data
ClinVar Variation Id:
2930150
ClinVar RCV Id:
RCV003787508
dbSNP Id:
rs1164106802
gnomAD v2:
17-7919050-C-A
gnomAD v4:
17-8015732-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015732C>A , CM000679.2:g.8015732C>A | GRCh38 |
| NC_000017.10:g.7919050C>A , CM000679.1:g.7919050C>A | GRCh37 |
| NC_000017.9:g.7859775C>A | NCBI36 |
| NG_009092.1:g.18063C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2945-11C>A MANE Select | ENSP00000254854.4:n.2945-11C>A | |
| ENST00000254854.4:c.2945-11C>A | ENSP00000254854.4:n.2945-11C>A | |
| NM_000180.3:c.2945-11C>A | NP_000171.1:n.2945-11C>A | |
| XM_011523816.1:c.2945-11C>A | XP_011522118.1:n.2945-11C>A | |
| NM_000180.4:c.2945-11C>A MANE Select | NP_000171.1:n.2945-11C>A |