Linked Data
ClinVar Variation Id:
1201343
ClinVar RCV Id:
RCV001566657
dbSNP Id:
rs750852888
ExAC:
22:51160170 A / T
gnomAD v2:
22-51160170-A-T
gnomAD v3:
22-50721742-A-T
gnomAD v4:
22-50721742-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50721742A>T , CM000684.2:g.50721742A>T | GRCh38 |
| NC_000022.10:g.51160170A>T , CM000684.1:g.51160170A>T | GRCh37 |
| NC_000022.9:g.49507036A>T | NCBI36 |
| NG_008607.2:g.52388A>T | |
| NG_070230.1:g.57526A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.3510A>T | ENSP00000489147.2:p.Arg1170= | |
| ENST00000414786.7:n.4094A>T | ||
| ENST00000445220.7:c.2562A>T | ENSP00000489407.2:p.Arg854= | |
| ENST00000664402.2:c.2052A>T | ENSP00000499475.1:p.Arg684= | |
| ENST00000673971.2:c.*2508A>T | ENSP00000501192.1:n.*2508A>T | |
| ENST00000445220.6:c.2562A>T | ENSP00000489407.2:p.Arg854= | |
| ENST00000262795.6:c.3510A>T | ENSP00000489147.2:p.Arg1170= | |
| ENST00000664402.1:c.2052A>T | ENSP00000499475.1:p.Arg684= | |
| ENST00000673971.1:c.*2508A>T | ENSP00000501192.1:n.*2508A>T | |
| ENST00000262795.5:c.3906A>T | ENSP00000489147.1:p.Arg1302= | |
| ENST00000414786.6:n.4094A>T | ||
| ENST00000445220.5:c.3888A>T | ENSP00000489407.1:p.Arg1296= |