Linked Data
ClinVar Variation Id:
973381
ClinVar RCV Id:
RCV001249902
dbSNP Id:
rs763158627
ExAC:
22:51159813 G / A
gnomAD v2:
22-51159813-G-A
gnomAD v4:
22-50721385-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50721385G>A , CM000684.2:g.50721385G>A | GRCh38 |
| NC_000022.10:g.51159813G>A , CM000684.1:g.51159813G>A | GRCh37 |
| NC_000022.9:g.49506679G>A | NCBI36 |
| NG_008607.2:g.52031G>A | |
| NG_070230.1:g.57169G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.3153G>A | ENSP00000489147.2:p.Glu1051= | |
| ENST00000414786.7:n.3737G>A | ||
| ENST00000445220.7:c.2205G>A | ENSP00000489407.2:p.Glu735= | |
| ENST00000664402.2:c.1695G>A | ENSP00000499475.1:p.Glu565= | |
| ENST00000673971.2:c.*2151G>A | ENSP00000501192.1:n.*2151G>A | |
| ENST00000445220.6:c.2205G>A | ENSP00000489407.2:p.Glu735= | |
| ENST00000262795.6:c.3153G>A | ENSP00000489147.2:p.Glu1051= | |
| ENST00000664402.1:c.1695G>A | ENSP00000499475.1:p.Glu565= | |
| ENST00000673971.1:c.*2151G>A | ENSP00000501192.1:n.*2151G>A | |
| ENST00000262795.5:c.3549G>A | ENSP00000489147.1:p.Glu1183= | |
| ENST00000414786.6:n.3737G>A | ||
| ENST00000445220.5:c.3531G>A | ENSP00000489407.1:p.Glu1177= |