Linked Data
ClinVar Variation Id:
1440982
ClinVar RCV Id:
RCV001978989
dbSNP Id:
rs4072568
gnomAD v2:
15-80884025-G-T
gnomAD v4:
15-80591684-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80591684G>T , CM000677.2:g.80591684G>T | GRCh38 |
| NC_000015.9:g.80884025G>T , CM000677.1:g.80884025G>T | GRCh37 |
| NC_000015.8:g.78671080G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303329.9:c.2035G>T MANE Select | ENSP00000307479.4:p.Gly679Cys | |
| ENST00000303329.8:c.2035G>T | ENSP00000307479.4:p.Gly679Cys | |
| ENST00000527771.5:c.2002G>T | ENSP00000453792.1:p.Gly668Cys | |
| ENST00000533983.5:c.2002G>T | ENSP00000453651.1:p.Gly668Cys | |
| ENST00000610490.4:c.*333G>T | ENSP00000483762.1:n.*333G>T | |
| ENST00000622346.4:c.2035G>T | ENSP00000479393.1:p.Gly679Cys | |
| NM_014862.3:c.2035G>T | NP_055677.3:p.Gly679Cys | |
| NM_014862.4:c.2035G>T MANE Select | NP_055677.3:p.Gly679Cys |