Linked Data
ClinVar Variation Id:
214653
dbSNP Id:
rs140234726
ExAC:
1:12059085 G / A
gnomAD v2:
1-12059085-G-A
gnomAD v3:
1-11999028-G-A
gnomAD v4:
1-11999028-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11999028G>A , CM000663.2:g.11999028G>A | GRCh38 |
| NC_000001.10:g.12059085G>A , CM000663.1:g.12059085G>A | GRCh37 |
| NC_000001.9:g.11981672G>A | NCBI36 |
| NG_007945.1:g.23848G>A , LRG_255:g.23848G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000235329.10:c.749G>A MANE Select | ENSP00000235329.5:p.Arg250Gln | |
| ENST00000674548.1:c.749G>A | ENSP00000502185.1:p.Arg250Gln | |
| ENST00000674658.1:c.404G>A | ENSP00000502334.1:p.Arg135Gln | |
| ENST00000674706.1:n.1188G>A | ||
| ENST00000674817.1:c.749G>A | ENSP00000502151.1:p.Arg250Gln | |
| ENST00000674910.1:c.749G>A | ENSP00000501716.1:p.Arg250Gln | |
| ENST00000675053.1:c.749G>A | ENSP00000501646.1:p.Arg250Gln | |
| ENST00000675113.1:c.749G>A | ENSP00000502623.1:p.Arg250Gln | |
| ENST00000675194.1:n.1174G>A | ||
| ENST00000675231.1:c.749G>A | ENSP00000502404.1:p.Arg250Gln | |
| ENST00000675298.1:c.749G>A | ENSP00000501839.1:p.Arg250Gln | |
| ENST00000675374.1:n.548G>A | ||
| ENST00000675483.1:n.877G>A | ||
| ENST00000675512.1:c.*751G>A | ENSP00000502630.1:n.*751G>A | |
| ENST00000675528.1:n.240G>A | ||
| ENST00000675817.1:c.749G>A | ENSP00000502422.1:p.Arg250Gln | |
| ENST00000675872.1:n.1109G>A | ||
| ENST00000675919.1:c.749G>A | ENSP00000501776.1:p.Arg250Gln | |
| ENST00000675959.1:n.1255G>A | ||
| ENST00000675987.1:c.749G>A | ENSP00000502145.1:p.Arg250Gln | |
| ENST00000676293.1:c.749G>A | ENSP00000502362.1:p.Arg250Gln | |
| ENST00000676426.1:c.599+1607G>A | ENSP00000502359.1:n.599+1607G>A | |
| ENST00000235329.9:c.749G>A | ENSP00000235329.5:p.Arg250Gln | |
| ENST00000444836.5:c.749G>A | ENSP00000416338.1:p.Arg250Gln | |
| NM_001127660.1:c.749G>A | NP_001121132.1:p.Arg250Gln | |
| NM_014874.3:c.749G>A , LRG_255t1:c.749G>A | NP_055689.1:p.Arg250Gln | |
| XM_005263543.2:c.749G>A | XP_005263600.1:p.Arg250Gln | |
| XM_005263545.2:c.749G>A | XP_005263602.1:p.Arg250Gln | |
| XM_005263547.2:c.749G>A | XP_005263604.1:p.Arg250Gln | |
| XM_005263548.2:c.749G>A | XP_005263605.1:p.Arg250Gln | |
| XM_005263543.3:c.749G>A | XP_005263600.1:p.Arg250Gln | |
| XM_005263545.3:c.749G>A | XP_005263602.1:p.Arg250Gln | |
| XM_005263547.3:c.749G>A | XP_005263604.1:p.Arg250Gln | |
| XM_005263548.3:c.749G>A | XP_005263605.1:p.Arg250Gln | |
| XM_024451299.1:c.749G>A | XP_024307067.1:p.Arg250Gln | |
| NM_014874.4:c.749G>A MANE Select | NP_055689.1:p.Arg250Gln | |
| NM_001127660.2:c.749G>A | NP_001121132.1:p.Arg250Gln |