gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000754 (EAS)
Exomes Max Group AF
0.00000855 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40718299G>A , CM000681.2:g.40718299G>A | GRCh38 |
| NC_000019.9:g.41224204G>A , CM000681.1:g.41224204G>A | GRCh37 |
| NC_000019.8:g.45916044G>A | NCBI36 |
| NG_012970.1:g.6197G>A | |
| NG_027800.1:g.3587C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699488.1:c.1155+9G>A (ITPKC) | ENSP00000514399.1:n.1155+9G>A | |
| ENST00000699489.1:c.1155+9G>A (ITPKC) | ENSP00000514400.1:n.1155+9G>A | |
| ENST00000699490.1:c.1155+9G>A (ITPKC) | ENSP00000514401.1:n.1155+9G>A | |
| ENST00000263370.3:c.1155+9G>A (ITPKC) MANE Select | ENSP00000263370.1:n.1155+9G>A | |
| ENST00000677039.1:n.17-3207C>T (COQ8B) | ||
| ENST00000263370.2:c.1155+9G>A (ITPKC) | ENSP00000263370.1:n.1155+9G>A | |
| NM_025194.2:c.1155+9G>A (ITPKC) | NP_079470.1:n.1155+9G>A | |
| XM_006723404.1:c.1155+9G>A (ITPKC) | XP_006723467.1:n.1155+9G>A | |
| XR_243961.1:n.1311+9G>A (ITPKC) | ||
| XM_017027324.2:c.306+9G>A (ITPKC) | XP_016882813.1:n.306+9G>A | |
| NM_025194.3:c.1155+9G>A (ITPKC) MANE Select | NP_079470.1:n.1155+9G>A |