Linked Data
ClinVar Variation Id:
341922
ClinVar RCV Id:
RCV000381090
dbSNP Id:
rs531789428
gnomAD v2:
22-44319680-A-T
gnomAD v3:
22-43923800-A-T
gnomAD v4:
22-43923800-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43923800A>T , CM000684.2:g.43923800A>T | GRCh38 |
| NC_000022.10:g.44319680A>T , CM000684.1:g.44319680A>T | GRCh37 |
| NC_000022.9:g.42651013A>T | NCBI36 |
| NG_008631.1:g.5062A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.7:c.-112A>T | ENSP00000216180.3:n.-112A>T | |
| ENST00000406117.6:c.-112A>T | ENSP00000384668.2:n.-112A>T | |
| NM_025225.2:c.-112A>T | NP_079501.2:n.-112A>T |