Linked Data
ClinVar Variation Id:
192094
ClinVar RCV Id:
RCV000172487
RCV000557117
RCV001135137
RCV001135139
RCV001135141
RCV001135138
RCV001135140
RCV002426824
dbSNP Id:
rs199507913
ExAC:
2:179650587 G / C
gnomAD v2:
2-179650587-G-C
gnomAD v3:
2-178785860-G-C
gnomAD v4:
2-178785860-G-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178785860G>C , CM000664.2:g.178785860G>C | GRCh38 |
| NC_000002.11:g.179650587G>C , CM000664.1:g.179650587G>C | GRCh37 |
| NC_000002.10:g.179358832G>C | NCBI36 |
| NG_011618.3:g.49943C>G , LRG_391:g.49943C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.2358C>G | ENSP00000343764.6:p.His786Gln | |
| ENST00000342175.11:c.2220C>G | ENSP00000340554.6:p.His740Gln | |
| ENST00000359218.10:c.2220C>G | ENSP00000352154.5:p.His740Gln | |
| ENST00000360870.10:c.2358C>G MANE Plus Clinical | ENSP00000354117.4:p.His786Gln | |
| ENST00000342175.10:c.2220C>G | ENSP00000340554.6:p.His740Gln | |
| ENST00000342992.10:c.2358C>G | ENSP00000343764.6:p.His786Gln | |
| ENST00000359218.9:c.2220C>G | ENSP00000352154.5:p.His740Gln | |
| ENST00000360870.9:c.2358C>G | ENSP00000354117.4:p.His786Gln | |
| ENST00000460472.6:c.2220C>G | ENSP00000434586.1:p.His740Gln | |
| ENST00000589042.5:c.2358C>G MANE Select | ENSP00000467141.1:p.His786Gln | |
| ENST00000591111.5:c.2358C>G | ENSP00000465570.1:p.His786Gln | |
| ENST00000615779.4:c.2358C>G | ENSP00000483597.1:p.His786Gln | |
| NM_001256850.1:c.2358C>G | NP_001243779.1:p.His786Gln | |
| NM_001267550.2:c.2358C>G MANE Select | NP_001254479.2:p.His786Gln | |
| NM_003319.4:c.2220C>G | NP_003310.4:p.His740Gln | |
| NM_133378.4:c.2358C>G | NP_596869.4:p.His786Gln | |
| NM_133379.4:c.2358C>G , LRG_391t2:c.2358C>G | NP_596870.2:p.His786Gln | |
| NM_133432.3:c.2220C>G | NP_597676.3:p.His740Gln | |
| NM_133437.4:c.2220C>G | NP_597681.4:p.His740Gln | |
| XM_011511729.1:c.2406C>G | XP_011510031.1:p.His802Gln | |
| XM_011511730.1:c.2406C>G | XP_011510032.1:p.His802Gln | |
| XM_011511731.1:c.2265C>G | XP_011510033.1:p.His755Gln | |
| XM_011511732.1:c.2403C>G | XP_011510034.1:p.His801Gln | |
| XM_017004819.1:c.2361C>G | XP_016860308.1:p.His787Gln | |
| XM_017004820.1:c.2361C>G | XP_016860309.1:p.His787Gln | |
| XM_017004821.1:c.2358C>G | XP_016860310.1:p.His786Gln | |
| XM_017004822.1:c.2361C>G | XP_016860311.1:p.His787Gln | |
| XM_017004823.1:c.2361C>G | XP_016860312.1:p.His787Gln | |
| XM_024453094.1:c.2361C>G | XP_024308862.1:p.His787Gln | |
| XM_024453095.1:c.2361C>G | XP_024308863.1:p.His787Gln | |
| XM_024453096.1:c.2361C>G | XP_024308864.1:p.His787Gln | |
| XM_024453097.1:c.2361C>G | XP_024308865.1:p.His787Gln | |
| XM_024453098.1:c.2361C>G | XP_024308866.1:p.His787Gln | |
| XM_024453099.1:c.2361C>G | XP_024308867.1:p.His787Gln | |
| NM_133379.5:c.2358C>G MANE Plus Clinical | NP_596870.2:p.His786Gln |