Linked Data
ClinVar Variation Id:
1946731
ClinVar RCV Id:
RCV002659130
dbSNP Id:
rs1337171532
gnomAD v3:
12-6843059-C-G
gnomAD v4:
12-6843059-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6843059C>G , CM000674.2:g.6843059C>G | GRCh38 |
| NC_000012.11:g.6952223C>G , CM000674.1:g.6952223C>G | GRCh37 |
| NC_000012.10:g.6822484C>G | NCBI36 |
| NG_009100.1:g.7849C>G | |
| NG_009100.2:g.7849C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229264.8:c.186C>G MANE Select | ENSP00000229264.3:p.His62Gln | |
| ENST00000229264.7:c.186C>G | ENSP00000229264.3:p.His62Gln | |
| ENST00000435982.6:c.186C>G | ENSP00000414734.2:p.His62Gln | |
| ENST00000537035.1:c.186C>G | ENSP00000445967.1:p.His62Gln | |
| ENST00000539127.5:c.*206C>G | ENSP00000444325.1:n.*206C>G | |
| ENST00000540458.5:n.1537C>G | ||
| ENST00000541257.5:c.186C>G | ENSP00000442002.1:p.His62Gln | |
| ENST00000541978.5:c.186C>G | ENSP00000439753.2:p.His62Gln | |
| NM_001297571.1:c.186C>G | NP_001284500.1:p.His62Gln | |
| NM_002075.3:c.186C>G | NP_002066.1:p.His62Gln | |
| XM_011520953.1:c.186C>G | XP_011519255.1:p.His62Gln | |
| XM_011520954.1:c.186C>G | XP_011519256.1:p.His62Gln | |
| XM_011520953.3:c.186C>G | XP_011519255.1:p.His62Gln | |
| NM_001297571.2:c.186C>G | NP_001284500.1:p.His62Gln | |
| NM_002075.4:c.186C>G MANE Select | NP_002066.1:p.His62Gln |