Linked Data
ClinVar Variation Id:
1153205
dbSNP Id:
rs139286519
ExAC:
9:133573004 G / A
gnomAD v2:
9-133573004-G-A
gnomAD v3:
9-130697617-G-A
gnomAD v4:
9-130697617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130697617G>A , CM000671.2:g.130697617G>A | GRCh38 |
| NC_000009.11:g.133573004G>A , CM000671.1:g.133573004G>A | GRCh37 |
| NC_000009.10:g.132562825G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430138.7:n.14G>A | ||
| ENST00000491115.7:c.225-1712G>A | ENSP00000509903.1:n.225-1712G>A | |
| ENST00000495699.3:c.260G>A | ENSP00000418463.3:p.Arg87Gln | |
| ENST00000546165.6:c.260G>A | ENSP00000444917.1:p.Arg87Gln | |
| ENST00000685137.1:c.*45G>A | ENSP00000510555.1:n.*45G>A | |
| ENST00000685277.1:c.273G>A | ENSP00000508897.1:n.273G>A | |
| ENST00000686102.1:n.296G>A | ||
| ENST00000686106.1:n.271G>A | ||
| ENST00000687051.1:c.260G>A | ENSP00000509862.1:p.Arg87Gln | |
| ENST00000687420.1:c.*45G>A | ENSP00000510661.1:n.*45G>A | |
| ENST00000688258.1:c.260G>A | ENSP00000509176.1:p.Arg87Gln | |
| ENST00000688350.1:n.271G>A | ||
| ENST00000688364.1:n.139G>A | ||
| ENST00000688967.1:c.*45G>A | ENSP00000509217.1:n.*45G>A | |
| ENST00000689662.1:n.139G>A | ||
| ENST00000689890.1:c.260G>A | ENSP00000508702.1:p.Arg87Gln | |
| ENST00000691104.1:n.281G>A | ||
| ENST00000691162.1:n.272G>A | ||
| ENST00000691284.1:c.260G>A | ENSP00000508620.1:p.Arg87Gln | |
| ENST00000691425.1:n.272G>A | ||
| ENST00000691926.1:c.260G>A | ENSP00000510677.1:p.Arg87Gln | |
| ENST00000692554.1:n.285G>A | ||
| ENST00000692794.1:c.*45G>A | ENSP00000510147.1:n.*45G>A | |
| ENST00000693011.1:c.*45G>A | ENSP00000508836.1:n.*45G>A | |
| ENST00000693435.1:c.*45G>A | ENSP00000509661.1:n.*45G>A | |
| ENST00000693610.1:c.*45G>A | ENSP00000509388.1:n.*45G>A | |
| ENST00000372358.10:c.260G>A MANE Select | ENSP00000361433.5:p.Arg87Gln | |
| ENST00000372350.7:c.260G>A | ENSP00000361425.2:p.Arg87Gln | |
| ENST00000372351.7:c.260G>A | ENSP00000361426.3:p.Arg87Gln | |
| ENST00000372352.7:c.260G>A | ENSP00000361427.3:p.Arg87Gln | |
| ENST00000372358.9:c.260G>A | ENSP00000361433.5:p.Arg87Gln | |
| ENST00000430138.6:n.290G>A | ||
| ENST00000463488.1:n.246G>A | ||
| ENST00000490641.5:n.237-1712G>A | ||
| ENST00000491115.6:n.296-1712G>A | ||
| ENST00000495699.2:c.246G>A | ||
| ENST00000546165.5:c.260G>A | ENSP00000444917.1:p.Arg87Gln | |
| NM_001282708.1:c.260G>A | NP_001269637.1:p.Arg87Gln | |
| NM_001282709.1:c.260G>A | NP_001269638.1:p.Arg87Gln | |
| NM_014285.6:c.260G>A | NP_055100.2:p.Arg87Gln | |
| NR_104230.1:n.292G>A | ||
| XM_005272176.2:c.-77G>A | XP_005272233.1:n.-77G>A | |
| XM_006717022.1:c.260G>A | XP_006717085.1:p.Arg87Gln | |
| XM_006717023.2:c.-41G>A | XP_006717086.1:n.-41G>A | |
| XM_006717024.2:c.260G>A | XP_006717087.1:p.Arg87Gln | |
| XM_017014558.1:c.-611G>A | XP_016870047.1:n.-611G>A | |
| XR_001746262.1:n.272G>A | ||
| NM_014285.7:c.260G>A MANE Select | NP_055100.2:p.Arg87Gln |