Linked Data
ClinVar Variation Id:
4277
dbSNP Id:
rs28493229
ExAC:
19:41224204 G / C
gnomAD v2:
19-41224204-G-C
gnomAD v3:
19-40718299-G-C
gnomAD v4:
19-40718299-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40718299G>C , CM000681.2:g.40718299G>C | GRCh38 |
| NC_000019.9:g.41224204G>C , CM000681.1:g.41224204G>C | GRCh37 |
| NC_000019.8:g.45916044G>C | NCBI36 |
| NG_012970.1:g.6197G>C | |
| NG_027800.1:g.3587C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699488.1:c.1155+9G>C (ITPKC) | ENSP00000514399.1:n.1155+9G>C | |
| ENST00000699489.1:c.1155+9G>C (ITPKC) | ENSP00000514400.1:n.1155+9G>C | |
| ENST00000699490.1:c.1155+9G>C (ITPKC) | ENSP00000514401.1:n.1155+9G>C | |
| ENST00000263370.3:c.1155+9G>C (ITPKC) MANE Select | ENSP00000263370.1:n.1155+9G>C | |
| ENST00000677039.1:n.17-3207C>G (COQ8B) | ||
| ENST00000263370.2:c.1155+9G>C (ITPKC) | ENSP00000263370.1:n.1155+9G>C | |
| NM_025194.2:c.1155+9G>C (ITPKC) | NP_079470.1:n.1155+9G>C | |
| XM_006723404.1:c.1155+9G>C (ITPKC) | XP_006723467.1:n.1155+9G>C | |
| XR_243961.1:n.1311+9G>C (ITPKC) | ||
| XM_017027324.2:c.306+9G>C (ITPKC) | XP_016882813.1:n.306+9G>C | |
| NM_025194.3:c.1155+9G>C (ITPKC) MANE Select | NP_079470.1:n.1155+9G>C |