gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33962047 (SAS)
Genomes Max Group AF
0.33962047 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.159541502T>C , CM000665.2:g.159541502T>C | GRCh38 |
| NC_000003.11:g.159259291T>C , CM000665.1:g.159259291T>C | GRCh37 |
| NC_000003.10:g.160741985T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638749.2:c.64-222941T>C (IQCJ-SCHIP1) MANE Select | ENSP00000491030.1:n.64-222941T>C | |
| ENST00000412423.8:c.64-222941T>C (IQCJ-SCHIP1) | ENSP00000400942.2:n.64-222941T>C | |
| ENST00000476809.7:c.211-222941T>C (IQCJ-SCHIP1) | ENSP00000418692.1:n.211-222941T>C | |
| ENST00000485419.7:c.292-222941T>C (IQCJ-SCHIP1) | ENSP00000420182.1:n.292-222941T>C | |
| ENST00000527095.7:c.63+267619T>C (IQCJ-SCHIP1) | ENSP00000436076.1:n.63+267619T>C | |
| ENST00000638749.1:c.64-222941T>C (IQCJ-SCHIP1) | ENSP00000491030.1:n.64-222941T>C | |
| ENST00000639147.1:n.273-222941T>C (IQCJ-SCHIP1) | ||
| ENST00000639298.1:c.211-222941T>C (IQCJ-SCHIP1) | ENSP00000491419.1:n.211-222941T>C | |
| ENST00000639631.1:c.292-222941T>C (IQCJ-SCHIP1) | ENSP00000491220.1:n.292-222941T>C | |
| ENST00000639979.1:c.205-222941T>C (IQCJ-SCHIP1) | ENSP00000492461.1:n.205-222941T>C | |
| ENST00000640015.1:c.284-222941T>C (IQCJ-SCHIP1) | ENSP00000492853.1:n.284-222941T>C | |
| ENST00000337808.10:c.64-222941T>C | ENSP00000337239.6:n.64-222941T>C | |
| ENST00000412423.6:c.64-222941T>C | ENSP00000400942.2:n.64-222941T>C | |
| ENST00000467442.5:n.273-222941T>C | ||
| ENST00000471575.5:c.284-222941T>C | ENSP00000419668.1:n.284-222941T>C | |
| ENST00000476809.5:c.211-222941T>C | ENSP00000418692.1:n.211-222941T>C | |
| ENST00000481715.5:c.211-222941T>C | ENSP00000419125.1:n.211-222941T>C | |
| ENST00000483486.5:c.292-222941T>C | ENSP00000419349.1:n.292-222941T>C | |
| ENST00000485419.5:c.292-222941T>C | ENSP00000420182.1:n.292-222941T>C | |
| ENST00000488898.1:c.205-222941T>C | ENSP00000420478.1:n.205-222941T>C | |
| ENST00000527095.5:c.63+267619T>C | ENSP00000436076.1:n.63+267619T>C | |
| NM_001197107.1:c.64-222941T>C (SCHIP1) | NP_001184036.1:n.64-222941T>C | |
| NM_001197108.1:c.63+267619T>C (SCHIP1) | NP_001184037.1:n.63+267619T>C | |
| NM_001197113.1:c.292-222941T>C (IQCJ-SCHIP1) | NP_001184042.1:n.292-222941T>C | |
| NM_001197114.1:c.211-222941T>C (IQCJ-SCHIP1) | NP_001184043.1:n.211-222941T>C | |
| NM_014575.3:c.64-222941T>C (SCHIP1) | NP_055390.1:n.64-222941T>C | |
| NM_001197107.2:c.64-222941T>C (SCHIP1) | NP_001184036.1:n.64-222941T>C | |
| NM_001197108.2:c.63+267619T>C (SCHIP1) | NP_001184037.1:n.63+267619T>C | |
| NM_001197113.2:c.292-222941T>C (IQCJ-SCHIP1) | NP_001184042.1:n.292-222941T>C | |
| NM_001197114.2:c.211-222941T>C (IQCJ-SCHIP1) | NP_001184043.1:n.211-222941T>C | |
| NM_014575.4:c.64-222941T>C (SCHIP1) MANE Select | NP_055390.1:n.64-222941T>C |