Linked Data
ClinVar Variation Id:
46759
ClinVar RCV Id:
RCV000040029
RCV000082380
RCV000280234
RCV000293034
RCV000387544
RCV000333108
RCV000374655
RCV000852888
RCV001082276
RCV001798137
dbSNP Id:
rs149855485
ExAC:
2:179581971 C / T
gnomAD v2:
2-179581971-C-T
gnomAD v3:
2-178717244-C-T
gnomAD v4:
2-178717244-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178717244C>T , CM000664.2:g.178717244C>T | GRCh38 |
| NC_000002.11:g.179581971C>T , CM000664.1:g.179581971C>T | GRCh37 |
| NC_000002.10:g.179290216C>T | NCBI36 |
| NG_011618.3:g.118559G>A , LRG_391:g.118559G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.21758G>A | ENSP00000343764.6:p.Arg7253His | |
| ENST00000342175.11:c.13858+20838G>A | ENSP00000340554.6:n.13858+20838G>A | |
| ENST00000359218.10:c.13657+20838G>A | ENSP00000352154.5:n.13657+20838G>A | |
| ENST00000342175.10:c.13858+20838G>A | ENSP00000340554.6:n.13858+20838G>A | |
| ENST00000342992.10:c.21758G>A | ENSP00000343764.6:p.Arg7253His | |
| ENST00000359218.9:c.13657+20838G>A | ENSP00000352154.5:n.13657+20838G>A | |
| ENST00000460472.6:c.13282+20838G>A | ENSP00000434586.1:n.13282+20838G>A | |
| ENST00000589042.5:c.25490G>A MANE Select | ENSP00000467141.1:p.Arg8497His | |
| ENST00000591111.5:c.24539G>A | ENSP00000465570.1:p.Arg8180His | |
| ENST00000615779.4:c.24539G>A | ENSP00000483597.1:p.Arg8180His | |
| NM_001256850.1:c.24539G>A | NP_001243779.1:p.Arg8180His | |
| NM_001267550.2:c.25490G>A MANE Select | NP_001254479.2:p.Arg8497His | |
| NM_003319.4:c.13282+20838G>A | NP_003310.4:n.13282+20838G>A | |
| NM_133378.4:c.21758G>A | NP_596869.4:p.Arg7253His | |
| NM_133432.3:c.13657+20838G>A | NP_597676.3:n.13657+20838G>A | |
| NM_133437.4:c.13858+20838G>A | NP_597681.4:n.13858+20838G>A | |
| XM_011511729.1:c.24587G>A | XP_011510031.1:p.Arg8196His | |
| XM_011511730.1:c.13468+20838G>A | XP_011510032.1:n.13468+20838G>A | |
| XM_011511731.1:c.13327+20838G>A | XP_011510033.1:n.13327+20838G>A | |
| XM_017004819.1:c.24542G>A | XP_016860308.1:p.Arg8181His | |
| XM_017004820.1:c.21761G>A | XP_016860309.1:p.Arg7254His | |
| XM_017004821.1:c.21758G>A | XP_016860310.1:p.Arg7253His | |
| XM_017004822.1:c.24542G>A | XP_016860311.1:p.Arg8181His | |
| XM_017004823.1:c.13423+20838G>A | XP_016860312.1:n.13423+20838G>A | |
| XM_024453094.1:c.24542G>A | XP_024308862.1:p.Arg8181His | |
| XM_024453095.1:c.24542G>A | XP_024308863.1:p.Arg8181His | |
| XM_024453096.1:c.24542G>A | XP_024308864.1:p.Arg8181His | |
| XM_024453097.1:c.24542G>A | XP_024308865.1:p.Arg8181His | |
| XM_024453098.1:c.24542G>A | XP_024308866.1:p.Arg8181His | |
| XM_024453099.1:c.13423+20838G>A | XP_024308867.1:n.13423+20838G>A |