Linked Data
ClinVar Variation Id:
1316288
ClinVar RCV Id:
RCV001766194
dbSNP Id:
rs6119641
gnomAD v2:
20-34287357-C-T
gnomAD v3:
20-35699435-C-T
gnomAD v4:
20-35699435-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35699435C>T , CM000682.2:g.35699435C>T | GRCh38 |
| NC_000020.10:g.34287357C>T , CM000682.1:g.34287357C>T | GRCh37 |
| NC_000020.9:g.33750771C>T | NCBI36 |
| NG_033237.1:g.4931G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374077.8:c.-22C>T MANE Select | ENSP00000363190.3:n.-22C>T | |
| ENST00000374077.7:c.-22C>T | ENSP00000363190.3:n.-22C>T | |
| ENST00000374078.5:c.-17C>T | ENSP00000363191.1:n.-17C>T | |
| NM_080748.2:c.-22C>T | NP_542786.1:n.-22C>T | |
| XM_017027678.1:c.-17C>T | XP_016883167.1:n.-17C>T | |
| NM_080748.3:c.-22C>T MANE Select | NP_542786.1:n.-22C>T |