Linked Data
ClinVar Variation Id:
229438
ClinVar RCV Id:
RCV000219774
RCV000733718
RCV001132571
RCV001132572
RCV001133480
RCV001133481
RCV001133482
dbSNP Id:
rs766391823
ExAC:
2:179489273 G / A
gnomAD v2:
2-179489273-G-A
gnomAD v3:
2-178624546-G-A
gnomAD v4:
2-178624546-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178624546G>A , CM000664.2:g.178624546G>A | GRCh38 |
| NC_000002.11:g.179489273G>A , CM000664.1:g.179489273G>A | GRCh37 |
| NC_000002.10:g.179197518G>A | NCBI36 |
| NG_011618.3:g.211257C>T , LRG_391:g.211257C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37030C>T | ENSP00000343764.6:p.His12344Tyr | |
| ENST00000342175.11:c.18115C>T | ENSP00000340554.6:p.His6039Tyr | |
| ENST00000359218.10:c.17914C>T | ENSP00000352154.5:p.His5972Tyr | |
| ENST00000342175.10:c.18115C>T | ENSP00000340554.6:p.His6039Tyr | |
| ENST00000342992.10:c.37030C>T | ENSP00000343764.6:p.His12344Tyr | |
| ENST00000359218.9:c.17914C>T | ENSP00000352154.5:p.His5972Tyr | |
| ENST00000460472.6:c.17539C>T | ENSP00000434586.1:p.His5847Tyr | |
| ENST00000589042.5:c.44734C>T MANE Select | ENSP00000467141.1:p.His14912Tyr | |
| ENST00000591111.5:c.39811C>T | ENSP00000465570.1:p.His13271Tyr | |
| ENST00000615779.4:c.39811C>T | ENSP00000483597.1:p.His13271Tyr | |
| NM_001256850.1:c.39811C>T | NP_001243779.1:p.His13271Tyr | |
| NM_001267550.2:c.44734C>T MANE Select | NP_001254479.2:p.His14912Tyr | |
| NM_003319.4:c.17539C>T | NP_003310.4:p.His5847Tyr | |
| NM_133378.4:c.37030C>T | NP_596869.4:p.His12344Tyr | |
| NM_133432.3:c.17914C>T | NP_597676.3:p.His5972Tyr | |
| NM_133437.4:c.18115C>T | NP_597681.4:p.His6039Tyr | |
| XM_011511729.1:c.43831C>T | XP_011510031.1:p.His14611Tyr | |
| XM_011511730.1:c.17725C>T | XP_011510032.1:p.His5909Tyr | |
| XM_011511731.1:c.17584C>T | XP_011510033.1:p.His5862Tyr | |
| XM_017004819.1:c.43627C>T | XP_016860308.1:p.His14543Tyr | |
| XM_017004820.1:c.39025C>T | XP_016860309.1:p.His13009Tyr | |
| XM_017004821.1:c.39022C>T | XP_016860310.1:p.His13008Tyr | |
| XM_017004822.1:c.36064C>T | XP_016860311.1:p.His12022Tyr | |
| XM_017004823.1:c.17680C>T | XP_016860312.1:p.His5894Tyr | |
| XM_024453094.1:c.39175C>T | XP_024308862.1:p.His13059Tyr | |
| XM_024453095.1:c.39172C>T | XP_024308863.1:p.His13058Tyr | |
| XM_024453096.1:c.38605C>T | XP_024308864.1:p.His12869Tyr | |
| XM_024453097.1:c.35947C>T | XP_024308865.1:p.His11983Tyr | |
| XM_024453098.1:c.35866C>T | XP_024308866.1:p.His11956Tyr | |
| XM_024453099.1:c.17629C>T | XP_024308867.1:p.His5877Tyr | |
| XM_024453100.1:c.7483C>T | XP_024308868.1:p.His2495Tyr |