Linked Data
dbSNP Id:
rs746820288
ExAC:
22:51160338 G / A
gnomAD v2:
22-51160338-G-A
gnomAD v4:
22-50721910-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50721910G>A , CM000684.2:g.50721910G>A | GRCh38 |
| NC_000022.10:g.51160338G>A , CM000684.1:g.51160338G>A | GRCh37 |
| NC_000022.9:g.49507204G>A | NCBI36 |
| NG_008607.2:g.52556G>A | |
| NG_070230.1:g.57694G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.3678G>A | ENSP00000489147.2:p.Glu1226= | |
| ENST00000414786.7:n.4262G>A | ||
| ENST00000445220.7:c.2730G>A | ENSP00000489407.2:p.Glu910= | |
| ENST00000664402.2:c.2220G>A | ENSP00000499475.1:p.Glu740= | |
| ENST00000673971.2:c.*2676G>A | ENSP00000501192.1:n.*2676G>A | |
| ENST00000445220.6:c.2730G>A | ENSP00000489407.2:p.Glu910= | |
| ENST00000262795.6:c.3678G>A | ENSP00000489147.2:p.Glu1226= | |
| ENST00000664402.1:c.2220G>A | ENSP00000499475.1:p.Glu740= | |
| ENST00000673971.1:c.*2676G>A | ENSP00000501192.1:n.*2676G>A | |
| ENST00000262795.5:c.4074G>A | ENSP00000489147.1:p.Glu1358= | |
| ENST00000414786.6:n.4262G>A | ||
| ENST00000445220.5:c.4056G>A | ENSP00000489407.1:p.Glu1352= |