Linked Data
ClinVar Variation Id:
304652
ClinVar RCV Id:
RCV000350705
dbSNP Id:
rs7942612
gnomAD v2:
11-44284705-C-A
gnomAD v3:
11-44263155-C-A
gnomAD v4:
11-44263155-C-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44263155C>A , CM000673.2:g.44263155C>A | GRCh38 |
| NC_000011.9:g.44284705C>A , CM000673.1:g.44284705C>A | GRCh37 |
| NC_000011.8:g.44241281C>A | NCBI36 |
| NG_015809.1:g.52012G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652299.1:c.*1699G>T MANE Select | ENSP00000498217.1:n.*1699G>T | |
| ENST00000329255.3:c.*1699G>T | ENSP00000332744.3:n.*1699G>T | |
| NM_021926.3:c.*1699G>T | NP_068745.2:n.*1699G>T | |
| XM_011520265.1:c.*1699G>T | XP_011518567.1:n.*1699G>T | |
| XM_011520266.1:c.*1699G>T | XP_011518568.1:n.*1699G>T | |
| NM_021926.4:c.*1699G>T MANE Select | NP_068745.2:n.*1699G>T |