Linked Data
ClinVar Variation Id:
663746
ClinVar RCV Id:
RCV000821686
dbSNP Id:
rs1166407911
gnomAD v3:
7-21636040-G-A
gnomAD v4:
7-21636040-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21636040G>A , CM000669.2:g.21636040G>A | GRCh38 |
| NC_000007.13:g.21675658G>A , CM000669.1:g.21675658G>A | GRCh37 |
| NC_000007.12:g.21642183G>A | NCBI36 |
| NG_012886.2:g.97826G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4670G>A MANE Select | ENSP00000475939.1:p.Arg1557Gln | |
| ENST00000328843.10:c.4685G>A | ENSP00000330671.7:p.Arg1562Gln | |
| ENST00000409508.7:c.4670G>A | ENSP00000475939.1:p.Arg1557Gln | |
| ENST00000465593.1:n.696G>A | ||
| ENST00000620169.4:c.4685G>A | ENSP00000481693.1:p.Arg1562Gln | |
| NM_001277115.1:c.4670G>A | NP_001264044.1:p.Arg1557Gln | |
| NM_001277115.2:c.4670G>A MANE Select | NP_001264044.1:p.Arg1557Gln |