gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44933208 (EAS)
Genomes Max Group AF
0.44933208 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40722063G>T , CM000681.2:g.40722063G>T | GRCh38 |
| NC_000019.9:g.41227968G>T , CM000681.1:g.41227968G>T | GRCh37 |
| NC_000019.8:g.45919808G>T | NCBI36 |
| NG_012970.1:g.9961G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699488.1:c.1155+3773G>T (ITPKC) | ENSP00000514399.1:n.1155+3773G>T | |
| ENST00000699489.1:c.1156-3277G>T (ITPKC) | ENSP00000514400.1:n.1156-3277G>T | |
| ENST00000699490.1:c.1156-3277G>T (ITPKC) | ENSP00000514401.1:n.1156-3277G>T | |
| ENST00000263370.3:c.1156-3277G>T (ITPKC) MANE Select | ENSP00000263370.1:n.1156-3277G>T | |
| ENST00000677039.1:n.16+3706C>A (COQ8B) | ||
| ENST00000263370.2:c.1156-3277G>T (ITPKC) | ENSP00000263370.1:n.1156-3277G>T | |
| NM_025194.2:c.1156-3277G>T (ITPKC) | NP_079470.1:n.1156-3277G>T | |
| XM_006723404.1:c.1156-3277G>T (ITPKC) | XP_006723467.1:n.1156-3277G>T | |
| XR_243961.1:n.1312-3277G>T (ITPKC) | ||
| XM_017027324.2:c.307-3277G>T (ITPKC) | XP_016882813.1:n.307-3277G>T | |
| NM_025194.3:c.1156-3277G>T (ITPKC) MANE Select | NP_079470.1:n.1156-3277G>T |