Linked Data
ClinVar Variation Id:
234877
dbSNP Id:
rs764417252
ExAC:
1:156846220 G / A
gnomAD v2:
1-156846220-G-A
gnomAD v3:
1-156876428-G-A
gnomAD v4:
1-156876428-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156876428G>A , CM000663.2:g.156876428G>A | GRCh38 |
| NC_000001.10:g.156846220G>A , CM000663.1:g.156846220G>A | GRCh37 |
| NC_000001.9:g.155112844G>A | NCBI36 |
| NG_007493.1:g.65679G>A , LRG_261:g.65679G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1481G>A | ENSP00000502725.1:p.Arg494Gln | |
| ENST00000392302.7:c.1481G>A | ENSP00000376120.3:p.Arg494Gln | |
| ENST00000497019.7:c.*253G>A | ENSP00000436804.2:n.*253G>A | |
| ENST00000524377.7:c.1661G>A MANE Select | ENSP00000431418.1:p.Arg554Gln | |
| ENST00000674537.1:c.1481G>A | ENSP00000502725.1:p.Arg494Gln | |
| ENST00000358660.3:c.1652G>A | ENSP00000351486.3:p.Arg551Gln | |
| ENST00000368196.7:c.1643G>A | ENSP00000357179.3:p.Arg548Gln | |
| ENST00000392302.6:c.1553G>A | ENSP00000376120.2:p.Arg518Gln | |
| ENST00000497019.6:c.*253G>A | ENSP00000436804.1:n.*253G>A | |
| ENST00000524377.5:c.1661G>A | ENSP00000431418.1:p.Arg554Gln | |
| ENST00000530298.5:n.2114G>A | ||
| NM_001007792.1:c.1553G>A , LRG_261t1:c.1553G>A | NP_001007793.1:p.Arg518Gln | |
| NM_001012331.1:c.1643G>A , LRG_261t2:c.1643G>A | NP_001012331.1:p.Arg548Gln | |
| NM_002529.3:c.1661G>A , LRG_261t3:c.1661G>A | NP_002520.2:p.Arg554Gln | |
| NM_001012331.2:c.1643G>A | NP_001012331.1:p.Arg548Gln | |
| NM_002529.4:c.1661G>A MANE Select | NP_002520.2:p.Arg554Gln |