Linked Data
ClinVar Variation Id:
238778
dbSNP Id:
rs374085402
ExAC:
2:179497056 T / C
gnomAD v2:
2-179497056-T-C
gnomAD v3:
2-178632329-T-C
gnomAD v4:
2-178632329-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632329T>C , CM000664.2:g.178632329T>C | GRCh38 |
| NC_000002.11:g.179497056T>C , CM000664.1:g.179497056T>C | GRCh37 |
| NC_000002.10:g.179205301T>C | NCBI36 |
| NG_011618.3:g.203474A>G , LRG_391:g.203474A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35861A>G | ENSP00000343764.6:p.His11954Arg | |
| ENST00000342175.11:c.16946A>G | ENSP00000340554.6:p.His5649Arg | |
| ENST00000359218.10:c.16745A>G | ENSP00000352154.5:p.His5582Arg | |
| ENST00000342175.10:c.16946A>G | ENSP00000340554.6:p.His5649Arg | |
| ENST00000342992.10:c.35861A>G | ENSP00000343764.6:p.His11954Arg | |
| ENST00000359218.9:c.16745A>G | ENSP00000352154.5:p.His5582Arg | |
| ENST00000460472.6:c.16370A>G | ENSP00000434586.1:p.His5457Arg | |
| ENST00000589042.5:c.43565A>G MANE Select | ENSP00000467141.1:p.His14522Arg | |
| ENST00000591111.5:c.38642A>G | ENSP00000465570.1:p.His12881Arg | |
| ENST00000615779.4:c.38642A>G | ENSP00000483597.1:p.His12881Arg | |
| NM_001256850.1:c.38642A>G | NP_001243779.1:p.His12881Arg | |
| NM_001267550.2:c.43565A>G MANE Select | NP_001254479.2:p.His14522Arg | |
| NM_003319.4:c.16370A>G | NP_003310.4:p.His5457Arg | |
| NM_133378.4:c.35861A>G | NP_596869.4:p.His11954Arg | |
| NM_133432.3:c.16745A>G | NP_597676.3:p.His5582Arg | |
| NM_133437.4:c.16946A>G | NP_597681.4:p.His5649Arg | |
| XM_011511729.1:c.42662A>G | XP_011510031.1:p.His14221Arg | |
| XM_011511730.1:c.16556A>G | XP_011510032.1:p.His5519Arg | |
| XM_011511731.1:c.16415A>G | XP_011510033.1:p.His5472Arg | |
| XM_017004819.1:c.42458A>G | XP_016860308.1:p.His14153Arg | |
| XM_017004820.1:c.37856A>G | XP_016860309.1:p.His12619Arg | |
| XM_017004821.1:c.37853A>G | XP_016860310.1:p.His12618Arg | |
| XM_017004822.1:c.34895A>G | XP_016860311.1:p.His11632Arg | |
| XM_017004823.1:c.16511A>G | XP_016860312.1:p.His5504Arg | |
| XM_024453094.1:c.38006A>G | XP_024308862.1:p.His12669Arg | |
| XM_024453095.1:c.38003A>G | XP_024308863.1:p.His12668Arg | |
| XM_024453096.1:c.37436A>G | XP_024308864.1:p.His12479Arg | |
| XM_024453097.1:c.34778A>G | XP_024308865.1:p.His11593Arg | |
| XM_024453098.1:c.34697A>G | XP_024308866.1:p.His11566Arg | |
| XM_024453099.1:c.16460A>G | XP_024308867.1:p.His5487Arg | |
| XM_024453100.1:c.6314A>G | XP_024308868.1:p.His2105Arg |