Linked Data
ClinVar Variation Id:
1750804
ClinVar RCV Id:
RCV002356108
dbSNP Id:
rs778918119
ExAC:
12:40734125 G / A
gnomAD v2:
12-40734125-G-A
gnomAD v4:
12-40340323-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40340323G>A , CM000674.2:g.40340323G>A | GRCh38 |
| NC_000012.11:g.40734125G>A , CM000674.1:g.40734125G>A | GRCh37 |
| NC_000012.10:g.39020392G>A | NCBI36 |
| NG_011709.1:g.120313G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.5978G>A MANE Select | ENSP00000298910.7:p.Arg1993Gln | |
| ENST00000679360.1:c.*4887G>A | ENSP00000505368.1:n.*4887G>A | |
| ENST00000679532.1:c.1752G>A | ||
| ENST00000680018.1:c.1423G>A | ENSP00000505347.1:n.1423G>A | |
| ENST00000680422.1:c.1623G>A | ||
| ENST00000680425.1:c.1145G>A | ENSP00000506459.1:n.1145G>A | |
| ENST00000680453.1:c.1435G>A | ||
| ENST00000680790.1:c.5723G>A | ENSP00000505335.1:p.Arg1908Gln | |
| ENST00000681136.1:n.1962G>A | ||
| ENST00000681696.1:c.1661G>A | ENSP00000505871.1:p.Arg554Gln | |
| ENST00000298910.11:c.5978G>A | ENSP00000298910.7:p.Arg1993Gln | |
| ENST00000430804.5:c.3274G>A | ||
| ENST00000479187.5:n.2659G>A | ||
| NM_198578.3:c.5978G>A | NP_940980.3:p.Arg1993Gln | |
| XM_005268629.2:c.5978G>A | XP_005268686.1:p.Arg1993Gln | |
| XM_011537877.1:c.5978G>A | XP_011536179.1:p.Arg1993Gln | |
| XM_011537878.1:c.5978G>A | XP_011536180.1:p.Arg1993Gln | |
| XM_011537879.1:c.4775G>A | XP_011536181.1:p.Arg1592Gln | |
| XM_005268629.4:c.5978G>A | XP_005268686.1:p.Arg1993Gln | |
| XM_011537877.3:c.5978G>A | XP_011536179.1:p.Arg1993Gln | |
| XM_017018787.1:c.2894G>A | XP_016874276.1:p.Arg965Gln | |
| XM_017018788.2:c.2240G>A | XP_016874277.1:p.Arg747Gln | |
| XM_024448833.1:c.4775G>A | XP_024304601.1:p.Arg1592Gln | |
| NM_198578.4:c.5978G>A MANE Select | NP_940980.4:p.Arg1993Gln |