Linked Data
dbSNP Id:
rs7251246
gnomAD v2:
19-41227106-C-T
gnomAD v3:
19-40721201-C-T
gnomAD v4:
19-40721201-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40721201C>T , CM000681.2:g.40721201C>T | GRCh38 |
| NC_000019.9:g.41227106C>T , CM000681.1:g.41227106C>T | GRCh37 |
| NC_000019.8:g.45918946C>T | NCBI36 |
| NG_012970.1:g.9099C>T | |
| NG_027800.1:g.685G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699488.1:c.1155+2911C>T (ITPKC) | ENSP00000514399.1:n.1155+2911C>T | |
| ENST00000699489.1:c.1155+2911C>T (ITPKC) | ENSP00000514400.1:n.1155+2911C>T | |
| ENST00000699490.1:c.1155+2911C>T (ITPKC) | ENSP00000514401.1:n.1155+2911C>T | |
| ENST00000263370.3:c.1155+2911C>T (ITPKC) MANE Select | ENSP00000263370.1:n.1155+2911C>T | |
| ENST00000677039.1:n.16+4568G>A (COQ8B) | ||
| ENST00000263370.2:c.1155+2911C>T (ITPKC) | ENSP00000263370.1:n.1155+2911C>T | |
| NM_025194.2:c.1155+2911C>T (ITPKC) | NP_079470.1:n.1155+2911C>T | |
| XM_006723404.1:c.1155+2911C>T (ITPKC) | XP_006723467.1:n.1155+2911C>T | |
| XR_243961.1:n.1311+2911C>T (ITPKC) | ||
| XM_017027324.2:c.306+2911C>T (ITPKC) | XP_016882813.1:n.306+2911C>T | |
| NM_025194.3:c.1155+2911C>T (ITPKC) MANE Select | NP_079470.1:n.1155+2911C>T |