Linked Data
ClinVar Variation Id:
178215
ClinVar RCV Id:
RCV000154949
RCV000253931
RCV000362278
RCV000407043
RCV000477342
RCV000307615
RCV000347369
RCV000407057
RCV001528883
dbSNP Id:
rs55973744
ExAC:
2:179490019 G / A
gnomAD v2:
2-179490019-G-A
gnomAD v3:
2-178625292-G-A
gnomAD v4:
2-178625292-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178625292G>A , CM000664.2:g.178625292G>A | GRCh38 |
| NC_000002.11:g.179490019G>A , CM000664.1:g.179490019G>A | GRCh37 |
| NC_000002.10:g.179198264G>A | NCBI36 |
| NG_011618.3:g.210511C>T , LRG_391:g.210511C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36825C>T | ENSP00000343764.6:p.His12275= | |
| ENST00000342175.11:c.17910C>T | ENSP00000340554.6:p.His5970= | |
| ENST00000359218.10:c.17709C>T | ENSP00000352154.5:p.His5903= | |
| ENST00000342175.10:c.17910C>T | ENSP00000340554.6:p.His5970= | |
| ENST00000342992.10:c.36825C>T | ENSP00000343764.6:p.His12275= | |
| ENST00000359218.9:c.17709C>T | ENSP00000352154.5:p.His5903= | |
| ENST00000460472.6:c.17334C>T | ENSP00000434586.1:p.His5778= | |
| ENST00000589042.5:c.44529C>T MANE Select | ENSP00000467141.1:p.His14843= | |
| ENST00000591111.5:c.39606C>T | ENSP00000465570.1:p.His13202= | |
| ENST00000615779.4:c.39606C>T | ENSP00000483597.1:p.His13202= | |
| NM_001256850.1:c.39606C>T | NP_001243779.1:p.His13202= | |
| NM_001267550.2:c.44529C>T MANE Select | NP_001254479.2:p.His14843= | |
| NM_003319.4:c.17334C>T | NP_003310.4:p.His5778= | |
| NM_133378.4:c.36825C>T | NP_596869.4:p.His12275= | |
| NM_133432.3:c.17709C>T | NP_597676.3:p.His5903= | |
| NM_133437.4:c.17910C>T | NP_597681.4:p.His5970= | |
| XM_011511729.1:c.43626C>T | XP_011510031.1:p.His14542= | |
| XM_011511730.1:c.17520C>T | XP_011510032.1:p.His5840= | |
| XM_011511731.1:c.17379C>T | XP_011510033.1:p.His5793= | |
| XM_017004819.1:c.43422C>T | XP_016860308.1:p.His14474= | |
| XM_017004820.1:c.38820C>T | XP_016860309.1:p.His12940= | |
| XM_017004821.1:c.38817C>T | XP_016860310.1:p.His12939= | |
| XM_017004822.1:c.35859C>T | XP_016860311.1:p.His11953= | |
| XM_017004823.1:c.17475C>T | XP_016860312.1:p.His5825= | |
| XM_024453094.1:c.38970C>T | XP_024308862.1:p.His12990= | |
| XM_024453095.1:c.38967C>T | XP_024308863.1:p.His12989= | |
| XM_024453096.1:c.38400C>T | XP_024308864.1:p.His12800= | |
| XM_024453097.1:c.35742C>T | XP_024308865.1:p.His11914= | |
| XM_024453098.1:c.35661C>T | XP_024308866.1:p.His11887= | |
| XM_024453099.1:c.17424C>T | XP_024308867.1:p.His5808= | |
| XM_024453100.1:c.7278C>T | XP_024308868.1:p.His2426= |