Linked Data
ClinVar Variation Id:
1738775
ClinVar RCV Id:
RCV002327986
dbSNP Id:
rs766718024
ExAC:
12:40702933 T / A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40309131T>A , CM000674.2:g.40309131T>A | GRCh38 |
| NC_000012.11:g.40702933T>A , CM000674.1:g.40702933T>A | GRCh37 |
| NC_000012.10:g.38989200T>A | NCBI36 |
| NG_011709.1:g.89121T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.4215T>A MANE Select | ENSP00000298910.7:p.His1405Gln | |
| ENST00000679360.1:c.*3124T>A | ENSP00000505368.1:n.*3124T>A | |
| ENST00000680790.1:c.3960T>A | ENSP00000505335.1:p.His1320Gln | |
| ENST00000298910.11:c.4215T>A | ENSP00000298910.7:p.His1405Gln | |
| ENST00000430804.5:c.1511T>A | ||
| ENST00000479187.5:n.896T>A | ||
| NM_198578.3:c.4215T>A | NP_940980.3:p.His1405Gln | |
| XM_005268629.2:c.4215T>A | XP_005268686.1:p.His1405Gln | |
| XM_011537877.1:c.4215T>A | XP_011536179.1:p.His1405Gln | |
| XM_011537878.1:c.4215T>A | XP_011536180.1:p.His1405Gln | |
| XM_011537879.1:c.3012T>A | XP_011536181.1:p.His1004Gln | |
| XM_011537880.1:c.4215T>A | XP_011536182.1:p.His1405Gln | |
| XM_011537881.1:c.4215T>A | XP_011536183.1:p.His1405Gln | |
| XM_005268629.4:c.4215T>A | XP_005268686.1:p.His1405Gln | |
| XM_011537877.3:c.4215T>A | XP_011536179.1:p.His1405Gln | |
| XM_011537881.3:c.4215T>A | XP_011536183.1:p.His1405Gln | |
| XM_017018786.2:c.4215T>A | XP_016874275.1:p.His1405Gln | |
| XM_017018787.1:c.1131T>A | XP_016874276.1:p.His377Gln | |
| XM_017018788.2:c.477T>A | XP_016874277.1:p.His159Gln | |
| XM_024448833.1:c.3012T>A | XP_024304601.1:p.His1004Gln | |
| XR_001748574.2:n.4457T>A | ||
| NM_198578.4:c.4215T>A MANE Select | NP_940980.4:p.His1405Gln |