gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5443904 (AMR)
Genomes Max Group AF
0.5443904 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40718993A>G , CM000681.2:g.40718993A>G | GRCh38 |
| NC_000019.9:g.41224898A>G , CM000681.1:g.41224898A>G | GRCh37 |
| NC_000019.8:g.45916738A>G | NCBI36 |
| NG_012970.1:g.6891A>G | |
| NG_027800.1:g.2893T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699488.1:c.1155+703A>G (ITPKC) | ENSP00000514399.1:n.1155+703A>G | |
| ENST00000699489.1:c.1155+703A>G (ITPKC) | ENSP00000514400.1:n.1155+703A>G | |
| ENST00000699490.1:c.1155+703A>G (ITPKC) | ENSP00000514401.1:n.1155+703A>G | |
| ENST00000263370.3:c.1155+703A>G (ITPKC) MANE Select | ENSP00000263370.1:n.1155+703A>G | |
| ENST00000677039.1:n.17-3901T>C (COQ8B) | ||
| ENST00000263370.2:c.1155+703A>G (ITPKC) | ENSP00000263370.1:n.1155+703A>G | |
| NM_025194.2:c.1155+703A>G (ITPKC) | NP_079470.1:n.1155+703A>G | |
| XM_006723404.1:c.1155+703A>G (ITPKC) | XP_006723467.1:n.1155+703A>G | |
| XR_243961.1:n.1311+703A>G (ITPKC) | ||
| XM_017027324.2:c.306+703A>G (ITPKC) | XP_016882813.1:n.306+703A>G | |
| NM_025194.3:c.1155+703A>G (ITPKC) MANE Select | NP_079470.1:n.1155+703A>G |