Linked Data
ClinVar Variation Id:
120302
dbSNP Id:
rs587777241
ExAC:
22:17688167 G / C
gnomAD v2:
22-17688167-G-C
gnomAD v4:
22-17207277-G-C
PubMed:
PMID:24552284
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17207277G>C , CM000684.2:g.17207277G>C | GRCh38 |
| NC_000022.10:g.17688167G>C , CM000684.1:g.17688167G>C | GRCh37 |
| NC_000022.9:g.16068167G>C | NCBI36 |
| NG_033943.1:g.19578C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449907.8:c.210C>G | ENSP00000406443.2:p.His70Gln | |
| ENST00000543038.2:c.336C>G | ENSP00000442482.2:p.His112Gln | |
| ENST00000610390.5:c.-25C>G | ENSP00000483418.1:n.-25C>G | |
| ENST00000649310.2:c.336C>G | ENSP00000496839.2:p.His112Gln | |
| ENST00000649746.2:c.336C>G | ENSP00000497913.2:p.His112Gln | |
| ENST00000649915.2:c.336C>G | ENSP00000497681.2:p.His112Gln | |
| ENST00000696196.1:c.336C>G | ENSP00000512479.1:p.His112Gln | |
| ENST00000696197.1:c.336C>G | ENSP00000512480.1:p.His112Gln | |
| ENST00000696225.1:c.336C>G | ENSP00000512491.1:p.His112Gln | |
| ENST00000696226.1:c.336C>G | ENSP00000512492.1:p.His112Gln | |
| ENST00000696227.1:c.336C>G | ENSP00000512493.1:p.His112Gln | |
| ENST00000399837.8:c.336C>G MANE Select | ENSP00000382731.2:p.His112Gln | |
| ENST00000449907.7:c.210C>G | ENSP00000406443.2:p.His70Gln | |
| ENST00000649540.1:c.210C>G | ENSP00000497469.1:p.His70Gln | |
| ENST00000649915.1:c.163C>G | ||
| ENST00000650635.1:n.336C>G | ||
| ENST00000262607.3:c.336C>G | ENSP00000262607.2:p.His112Gln | |
| ENST00000399837.6:c.336C>G | ENSP00000382731.2:p.His112Gln | |
| ENST00000399839.5:c.336C>G | ENSP00000382733.1:p.His112Gln | |
| ENST00000441548.1:c.336C>G | ENSP00000392078.1:p.His112Gln | |
| ENST00000449907.6:c.210C>G | ENSP00000406443.2:p.His70Gln | |
| ENST00000543038.1:c.336C>G | ENSP00000442482.1:p.His112Gln | |
| ENST00000610390.4:c.-25C>G | ENSP00000483418.1:n.-25C>G | |
| NM_001282225.1:c.336C>G | NP_001269154.1:p.His112Gln | |
| NM_001282226.1:c.336C>G | NP_001269155.1:p.His112Gln | |
| NM_001282227.1:c.210C>G | NP_001269156.1:p.His70Gln | |
| NM_001282228.1:c.210C>G | NP_001269157.1:p.His70Gln | |
| NM_001282229.1:c.-25C>G | NP_001269158.1:n.-25C>G | |
| XM_006724080.2:c.-2035C>G | XP_006724143.1:n.-2035C>G | |
| XM_011546133.1:c.336C>G | XP_011544435.1:p.His112Gln | |
| NM_001282225.2:c.336C>G MANE Select | NP_001269154.1:p.His112Gln | |
| XM_006724080.3:c.-2035C>G | XP_006724143.1:n.-2035C>G | |
| XM_011546133.2:c.336C>G | XP_011544435.1:p.His112Gln | |
| NM_001282226.2:c.336C>G | NP_001269155.1:p.His112Gln | |
| NM_001282227.2:c.210C>G | NP_001269156.1:p.His70Gln | |
| NM_001282228.2:c.210C>G | NP_001269157.1:p.His70Gln | |
| NM_001282229.2:c.-25C>G | NP_001269158.1:n.-25C>G |