Linked Data
ClinVar Variation Id:
4178
ClinVar RCV Id:
RCV000004395
dbSNP Id:
rs267607071
ExAC:
2:217340038 G / A
gnomAD v2:
2-217340038-G-A
gnomAD v3:
2-216475315-G-A
gnomAD v4:
2-216475315-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216475315G>A , CM000664.2:g.216475315G>A | GRCh38 |
| NC_000002.11:g.217340038G>A , CM000664.1:g.217340038G>A | GRCh37 |
| NC_000002.10:g.217048283G>A | NCBI36 |
| NG_009771.1:g.67902G>A , LRG_108:g.67902G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425815.6:c.2291G>A | ENSP00000394410.2:p.Arg764Gln | |
| ENST00000430374.6:c.2291G>A | ENSP00000405077.2:p.Arg764Gln | |
| ENST00000444508.6:c.2291G>A | ENSP00000398969.2:p.Arg764Gln | |
| ENST00000697899.1:c.2057G>A | ENSP00000513470.1:p.Arg686Gln | |
| ENST00000697901.1:c.*1046G>A | ENSP00000513471.1:n.*1046G>A | |
| ENST00000697903.1:c.*778G>A | ENSP00000513472.1:n.*778G>A | |
| ENST00000697904.1:c.*778G>A | ENSP00000513473.1:n.*778G>A | |
| ENST00000697905.1:c.*778G>A | ENSP00000513474.1:n.*778G>A | |
| ENST00000697906.1:c.2057G>A | ENSP00000513475.1:p.Arg686Gln | |
| ENST00000697907.1:c.*1149G>A | ENSP00000513476.1:n.*1149G>A | |
| ENST00000697908.1:n.1985G>A | ||
| ENST00000697909.1:n.1183G>A | ||
| ENST00000697910.1:n.688G>A | ||
| ENST00000697911.1:n.597G>A | ||
| ENST00000357276.9:c.2291G>A MANE Select | ENSP00000349823.4:p.Arg764Gln | |
| ENST00000357276.8:c.2291G>A | ENSP00000349823.4:p.Arg764Gln | |
| ENST00000358207.9:c.2291G>A | ENSP00000350940.5:p.Arg764Gln | |
| ENST00000392128.6:c.1817G>A | ENSP00000375974.2:p.Arg606Gln | |
| NM_001127207.1:c.2291G>A | NP_001120679.1:p.Arg764Gln | |
| NM_014140.3:c.2291G>A , LRG_108t1:c.2291G>A | NP_054859.2:p.Arg764Gln | |
| XM_005246631.2:c.2291G>A | XP_005246688.1:p.Arg764Gln | |
| XM_005246632.1:c.2291G>A | XP_005246689.1:p.Arg764Gln | |
| XM_006712557.1:c.2225G>A | XP_006712620.1:p.Arg742Gln | |
| XM_005246632.2:c.2291G>A | XP_005246689.1:p.Arg764Gln | |
| XM_017004228.2:c.1379G>A | XP_016859717.1:p.Arg460Gln | |
| NM_001127207.2:c.2291G>A | NP_001120679.1:p.Arg764Gln | |
| NM_014140.4:c.2291G>A MANE Select | NP_054859.2:p.Arg764Gln |