Linked Data
ClinVar Variation Id:
1254634
ClinVar RCV Id:
RCV001658816
dbSNP Id:
rs9285726
gnomAD v2:
10-82035150-A-T
gnomAD v3:
10-80275394-A-T
gnomAD v4:
10-80275394-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275394A>T , CM000672.2:g.80275394A>T | GRCh38 |
| NC_000010.10:g.82035150A>T , CM000672.1:g.82035150A>T | GRCh37 |
| NC_000010.9:g.82025130A>T | NCBI36 |
| NG_008083.1:g.19285T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.769-195T>A MANE Select | ENSP00000361287.3:n.769-195T>A | |
| ENST00000372213.7:c.769-195T>A | ENSP00000361287.3:n.769-195T>A | |
| ENST00000485270.5:n.86T>A | ||
| NM_000429.2:c.769-195T>A | NP_000420.1:n.769-195T>A | |
| XM_005269842.3:c.769-195T>A | XP_005269899.1:n.769-195T>A | |
| XM_005269843.3:c.646-195T>A | XP_005269900.1:n.646-195T>A | |
| NM_000429.3:c.769-195T>A MANE Select | NP_000420.1:n.769-195T>A |