Linked Data
ClinVar Variation Id:
543291
dbSNP Id:
rs145266399
ExAC:
1:10355818 G / A
gnomAD v2:
1-10355818-G-A
gnomAD v3:
1-10295760-G-A
gnomAD v4:
1-10295760-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10295760G>A , CM000663.2:g.10295760G>A | GRCh38 |
| NC_000001.10:g.10355818G>A , CM000663.1:g.10355818G>A | GRCh37 |
| NC_000001.9:g.10278405G>A | NCBI36 |
| NG_008069.1:g.90055G>A , LRG_252:g.90055G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696500.1:c.*805G>A | ENSP00000512666.1:n.*805G>A | |
| ENST00000696502.1:c.1633G>A | ENSP00000512668.1:p.Gly545Arg | |
| ENST00000696503.1:c.1696G>A | ENSP00000512669.1:p.Gly566Arg | |
| ENST00000696504.1:c.1696G>A | ENSP00000512670.1:p.Gly566Arg | |
| ENST00000377093.9:c.1633G>A | ENSP00000366297.4:p.Gly545Arg | |
| ENST00000676179.1:c.1771G>A MANE Select | ENSP00000502065.1:p.Gly591Arg | |
| ENST00000263934.10:c.1633G>A | ENSP00000263934.6:p.Gly545Arg | |
| ENST00000377081.5:c.1771G>A | ENSP00000366284.1:p.Gly591Arg | |
| ENST00000377083.5:c.1633G>A | ENSP00000366287.1:p.Gly545Arg | |
| ENST00000377086.5:c.1771G>A | ENSP00000366290.1:p.Gly591Arg | |
| ENST00000377093.8:c.1633G>A | ENSP00000366297.4:p.Gly545Arg | |
| ENST00000620295.2:c.1729G>A | ENSP00000478500.1:p.Gly577Arg | |
| ENST00000622724.3:c.1693G>A | ENSP00000480063.1:p.Gly565Arg | |
| NM_015074.3:c.1633G>A , LRG_252t1:c.1633G>A | NP_055889.2:p.Gly545Arg | |
| NM_183416.3:c.1633G>A | NP_904325.2:p.Gly545Arg | |
| NM_001365951.1:c.1771G>A | NP_001352880.1:p.Gly591Arg | |
| NM_001365952.1:c.1771G>A | NP_001352881.1:p.Gly591Arg | |
| NM_001365953.1:c.1633G>A | NP_001352882.1:p.Gly545Arg | |
| NM_001365951.3:c.1771G>A MANE Select | NP_001352880.1:p.Gly591Arg | |
| NM_183416.4:c.1633G>A | NP_904325.2:p.Gly545Arg |