Linked Data
ClinVar Variation Id:
501922
dbSNP Id:
rs754693395
ExAC:
2:179495573 G / A
gnomAD v2:
2-179495573-G-A
gnomAD v3:
2-178630846-G-A
gnomAD v4:
2-178630846-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178630846G>A , CM000664.2:g.178630846G>A | GRCh38 |
| NC_000002.11:g.179495573G>A , CM000664.1:g.179495573G>A | GRCh37 |
| NC_000002.10:g.179203818G>A | NCBI36 |
| NG_011618.3:g.204957C>T , LRG_391:g.204957C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36408C>T | ENSP00000343764.6:p.His12136= | |
| ENST00000342175.11:c.17493C>T | ENSP00000340554.6:p.His5831= | |
| ENST00000359218.10:c.17292C>T | ENSP00000352154.5:p.His5764= | |
| ENST00000342175.10:c.17493C>T | ENSP00000340554.6:p.His5831= | |
| ENST00000342992.10:c.36408C>T | ENSP00000343764.6:p.His12136= | |
| ENST00000359218.9:c.17292C>T | ENSP00000352154.5:p.His5764= | |
| ENST00000460472.6:c.16917C>T | ENSP00000434586.1:p.His5639= | |
| ENST00000589042.5:c.44112C>T MANE Select | ENSP00000467141.1:p.His14704= | |
| ENST00000591111.5:c.39189C>T | ENSP00000465570.1:p.His13063= | |
| ENST00000615779.4:c.39189C>T | ENSP00000483597.1:p.His13063= | |
| NM_001256850.1:c.39189C>T | NP_001243779.1:p.His13063= | |
| NM_001267550.2:c.44112C>T MANE Select | NP_001254479.2:p.His14704= | |
| NM_003319.4:c.16917C>T | NP_003310.4:p.His5639= | |
| NM_133378.4:c.36408C>T | NP_596869.4:p.His12136= | |
| NM_133432.3:c.17292C>T | NP_597676.3:p.His5764= | |
| NM_133437.4:c.17493C>T | NP_597681.4:p.His5831= | |
| XM_011511729.1:c.43209C>T | XP_011510031.1:p.His14403= | |
| XM_011511730.1:c.17103C>T | XP_011510032.1:p.His5701= | |
| XM_011511731.1:c.16962C>T | XP_011510033.1:p.His5654= | |
| XM_017004819.1:c.43005C>T | XP_016860308.1:p.His14335= | |
| XM_017004820.1:c.38403C>T | XP_016860309.1:p.His12801= | |
| XM_017004821.1:c.38400C>T | XP_016860310.1:p.His12800= | |
| XM_017004822.1:c.35442C>T | XP_016860311.1:p.His11814= | |
| XM_017004823.1:c.17058C>T | XP_016860312.1:p.His5686= | |
| XM_024453094.1:c.38553C>T | XP_024308862.1:p.His12851= | |
| XM_024453095.1:c.38550C>T | XP_024308863.1:p.His12850= | |
| XM_024453096.1:c.37983C>T | XP_024308864.1:p.His12661= | |
| XM_024453097.1:c.35325C>T | XP_024308865.1:p.His11775= | |
| XM_024453098.1:c.35244C>T | XP_024308866.1:p.His11748= | |
| XM_024453099.1:c.17007C>T | XP_024308867.1:p.His5669= | |
| XM_024453100.1:c.6861C>T | XP_024308868.1:p.His2287= |