Linked Data
ClinVar Variation Id:
589218
ClinVar RCV Id:
RCV002318641
dbSNP Id:
rs757833825
ExAC:
22:51159330 G / A
gnomAD v2:
22-51159330-G-A
gnomAD v3:
22-50720902-G-A
gnomAD v4:
22-50720902-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50720902G>A , CM000684.2:g.50720902G>A | GRCh38 |
| NC_000022.10:g.51159330G>A , CM000684.1:g.51159330G>A | GRCh37 |
| NC_000022.9:g.49506196G>A | NCBI36 |
| NG_008607.2:g.51548G>A | |
| NG_070230.1:g.56686G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2670G>A | ENSP00000489147.2:p.Arg890= | |
| ENST00000414786.7:n.3254G>A | ||
| ENST00000445220.7:c.1722G>A | ENSP00000489407.2:p.Arg574= | |
| ENST00000664402.2:c.1212G>A | ENSP00000499475.1:p.Arg404= | |
| ENST00000673971.2:c.*1668G>A | ENSP00000501192.1:n.*1668G>A | |
| ENST00000445220.6:c.1722G>A | ENSP00000489407.2:p.Arg574= | |
| ENST00000262795.6:c.2670G>A | ENSP00000489147.2:p.Arg890= | |
| ENST00000664402.1:c.1212G>A | ENSP00000499475.1:p.Arg404= | |
| ENST00000673971.1:c.*1668G>A | ENSP00000501192.1:n.*1668G>A | |
| ENST00000262795.5:c.3066G>A | ENSP00000489147.1:p.Arg1022= | |
| ENST00000414786.6:n.3254G>A | ||
| ENST00000445220.5:c.3048G>A | ENSP00000489407.1:p.Arg1016= |