Linked Data
ClinVar Variation Id:
39178
dbSNP Id:
rs7133914
ExAC:
12:40702911 G / A
gnomAD v2:
12-40702911-G-A
gnomAD v3:
12-40309109-G-A
gnomAD v4:
12-40309109-G-A
PubMed:
PMID:20301387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40309109G>A , CM000674.2:g.40309109G>A | GRCh38 |
| NC_000012.11:g.40702911G>A , CM000674.1:g.40702911G>A | GRCh37 |
| NC_000012.10:g.38989178G>A | NCBI36 |
| NG_011709.1:g.89099G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.4193G>A MANE Select | ENSP00000298910.7:p.Arg1398His | |
| ENST00000679360.1:c.*3102G>A | ENSP00000505368.1:n.*3102G>A | |
| ENST00000680790.1:c.3938G>A | ENSP00000505335.1:p.Arg1313His | |
| ENST00000298910.11:c.4193G>A | ENSP00000298910.7:p.Arg1398His | |
| ENST00000430804.5:c.1489G>A | ||
| ENST00000479187.5:n.874G>A | ||
| NM_198578.3:c.4193G>A | NP_940980.3:p.Arg1398His | |
| XM_005268629.2:c.4193G>A | XP_005268686.1:p.Arg1398His | |
| XM_011537877.1:c.4193G>A | XP_011536179.1:p.Arg1398His | |
| XM_011537878.1:c.4193G>A | XP_011536180.1:p.Arg1398His | |
| XM_011537879.1:c.2990G>A | XP_011536181.1:p.Arg997His | |
| XM_011537880.1:c.4193G>A | XP_011536182.1:p.Arg1398His | |
| XM_011537881.1:c.4193G>A | XP_011536183.1:p.Arg1398His | |
| XM_005268629.4:c.4193G>A | XP_005268686.1:p.Arg1398His | |
| XM_011537877.3:c.4193G>A | XP_011536179.1:p.Arg1398His | |
| XM_011537881.3:c.4193G>A | XP_011536183.1:p.Arg1398His | |
| XM_017018786.2:c.4193G>A | XP_016874275.1:p.Arg1398His | |
| XM_017018787.1:c.1109G>A | XP_016874276.1:p.Arg370His | |
| XM_017018788.2:c.455G>A | XP_016874277.1:p.Arg152His | |
| XM_024448833.1:c.2990G>A | XP_024304601.1:p.Arg997His | |
| XR_001748574.2:n.4435G>A | ||
| NM_198578.4:c.4193G>A MANE Select | NP_940980.4:p.Arg1398His |