Linked Data
ClinVar Variation Id:
39175
dbSNP Id:
rs72546338
ExAC:
12:40702283 G / A
gnomAD v2:
12-40702283-G-A
gnomAD v3:
12-40308481-G-A
gnomAD v4:
12-40308481-G-A
PubMed:
PMID:20301387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40308481G>A , CM000674.2:g.40308481G>A | GRCh38 |
| NC_000012.11:g.40702283G>A , CM000674.1:g.40702283G>A | GRCh37 |
| NC_000012.10:g.38988550G>A | NCBI36 |
| NG_011709.1:g.88471G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.3974G>A MANE Select | ENSP00000298910.7:p.Arg1325Gln | |
| ENST00000679360.1:c.*2883G>A | ENSP00000505368.1:n.*2883G>A | |
| ENST00000680790.1:c.3719G>A | ENSP00000505335.1:p.Arg1240Gln | |
| ENST00000298910.11:c.3974G>A | ENSP00000298910.7:p.Arg1325Gln | |
| ENST00000430804.5:c.1270G>A | ||
| ENST00000479187.5:n.655G>A | ||
| NM_198578.3:c.3974G>A | NP_940980.3:p.Arg1325Gln | |
| XM_005268629.2:c.3974G>A | XP_005268686.1:p.Arg1325Gln | |
| XM_011537877.1:c.3974G>A | XP_011536179.1:p.Arg1325Gln | |
| XM_011537878.1:c.3974G>A | XP_011536180.1:p.Arg1325Gln | |
| XM_011537879.1:c.2771G>A | XP_011536181.1:p.Arg924Gln | |
| XM_011537880.1:c.3974G>A | XP_011536182.1:p.Arg1325Gln | |
| XM_011537881.1:c.3974G>A | XP_011536183.1:p.Arg1325Gln | |
| XM_011537882.1:c.3792G>A | XP_011536184.1:p.Ala1264= | |
| XM_005268629.4:c.3974G>A | XP_005268686.1:p.Arg1325Gln | |
| XM_011537877.3:c.3974G>A | XP_011536179.1:p.Arg1325Gln | |
| XM_011537881.3:c.3974G>A | XP_011536183.1:p.Arg1325Gln | |
| XM_011537882.3:c.3792G>A | XP_011536184.1:p.Ala1264= | |
| XM_017018786.2:c.3974G>A | XP_016874275.1:p.Arg1325Gln | |
| XM_017018787.1:c.890G>A | XP_016874276.1:p.Arg297Gln | |
| XM_017018788.2:c.236G>A | XP_016874277.1:p.Arg79Gln | |
| XM_024448833.1:c.2771G>A | XP_024304601.1:p.Arg924Gln | |
| XR_001748574.2:n.4216G>A | ||
| NM_198578.4:c.3974G>A MANE Select | NP_940980.4:p.Arg1325Gln |