Linked Data
ClinVar Variation Id:
46967
dbSNP Id:
rs397517573
ExAC:
2:179497316 C / G
gnomAD v2:
2-179497316-C-G
gnomAD v3:
2-178632589-C-G
gnomAD v4:
2-178632589-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632589C>G , CM000664.2:g.178632589C>G | GRCh38 |
| NC_000002.11:g.179497316C>G , CM000664.1:g.179497316C>G | GRCh37 |
| NC_000002.10:g.179205561C>G | NCBI36 |
| NG_011618.3:g.203214G>C , LRG_391:g.203214G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35713G>C | ENSP00000343764.6:p.Asp11905His | |
| ENST00000342175.11:c.16798G>C | ENSP00000340554.6:p.Asp5600His | |
| ENST00000359218.10:c.16597G>C | ENSP00000352154.5:p.Asp5533His | |
| ENST00000342175.10:c.16798G>C | ENSP00000340554.6:p.Asp5600His | |
| ENST00000342992.10:c.35713G>C | ENSP00000343764.6:p.Asp11905His | |
| ENST00000359218.9:c.16597G>C | ENSP00000352154.5:p.Asp5533His | |
| ENST00000460472.6:c.16222G>C | ENSP00000434586.1:p.Asp5408His | |
| ENST00000589042.5:c.43417G>C MANE Select | ENSP00000467141.1:p.Asp14473His | |
| ENST00000591111.5:c.38494G>C | ENSP00000465570.1:p.Asp12832His | |
| ENST00000615779.4:c.38494G>C | ENSP00000483597.1:p.Asp12832His | |
| NM_001256850.1:c.38494G>C | NP_001243779.1:p.Asp12832His | |
| NM_001267550.2:c.43417G>C MANE Select | NP_001254479.2:p.Asp14473His | |
| NM_003319.4:c.16222G>C | NP_003310.4:p.Asp5408His | |
| NM_133378.4:c.35713G>C | NP_596869.4:p.Asp11905His | |
| NM_133432.3:c.16597G>C | NP_597676.3:p.Asp5533His | |
| NM_133437.4:c.16798G>C | NP_597681.4:p.Asp5600His | |
| XM_011511729.1:c.42514G>C | XP_011510031.1:p.Asp14172His | |
| XM_011511730.1:c.16408G>C | XP_011510032.1:p.Asp5470His | |
| XM_011511731.1:c.16267G>C | XP_011510033.1:p.Asp5423His | |
| XM_017004819.1:c.42310G>C | XP_016860308.1:p.Asp14104His | |
| XM_017004820.1:c.37708G>C | XP_016860309.1:p.Asp12570His | |
| XM_017004821.1:c.37705G>C | XP_016860310.1:p.Asp12569His | |
| XM_017004822.1:c.34747G>C | XP_016860311.1:p.Asp11583His | |
| XM_017004823.1:c.16363G>C | XP_016860312.1:p.Asp5455His | |
| XM_024453094.1:c.37858G>C | XP_024308862.1:p.Asp12620His | |
| XM_024453095.1:c.37855G>C | XP_024308863.1:p.Asp12619His | |
| XM_024453096.1:c.37288G>C | XP_024308864.1:p.Asp12430His | |
| XM_024453097.1:c.34630G>C | XP_024308865.1:p.Asp11544His | |
| XM_024453098.1:c.34549G>C | XP_024308866.1:p.Asp11517His | |
| XM_024453099.1:c.16312G>C | XP_024308867.1:p.Asp5438His | |
| XM_024453100.1:c.6166G>C | XP_024308868.1:p.Asp2056His |