Linked Data
ClinVar Variation Id:
1436902
ClinVar RCV Id:
RCV001955369
dbSNP Id:
rs757917733
ExAC:
8:10480119 G / A
gnomAD v2:
8-10480119-G-A
gnomAD v3:
8-10622609-G-A
gnomAD v4:
8-10622609-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622609G>A , CM000670.2:g.10622609G>A | GRCh38 |
| NC_000008.10:g.10480119G>A , CM000670.1:g.10480119G>A | GRCh37 |
| NC_000008.9:g.10517529G>A | NCBI36 |
| NG_028035.1:g.37499C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.593C>T MANE Select | ENSP00000371923.3:p.Thr198Met | |
| ENST00000329335.3:n.843C>T | ||
| ENST00000382483.3:c.593C>T | ENSP00000371923.3:p.Thr198Met | |
| NM_178857.5:c.593C>T | NP_849188.4:p.Thr198Met | |
| NM_178857.6:c.593C>T MANE Select | NP_849188.4:p.Thr198Met |