Linked Data
ClinVar Variation Id:
3043802
ClinVar RCV Id:
RCV003924735
dbSNP Id:
rs758215900
ExAC:
2:233641141 T / C
gnomAD v2:
2-233641141-T-C
gnomAD v4:
2-232776431-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232776431T>C , CM000664.2:g.232776431T>C | GRCh38 |
| NC_000002.11:g.233641141T>C , CM000664.1:g.233641141T>C | GRCh37 |
| NC_000002.10:g.233349385T>C | NCBI36 |
| NG_011847.1:g.84127T>C | |
| NG_016742.1:g.5135A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233826.4:c.-17+14A>G (KCNJ13) MANE Select | ENSP00000233826.3:n.-17+14A>G | |
| ENST00000373563.9:c.533-10719T>C (GIGYF2) MANE Select | ENSP00000362664.5:n.533-10719T>C | |
| ENST00000424038.2:c.*138-10719T>C (GIGYF2) | ENSP00000399064.1:n.*138-10719T>C | |
| ENST00000677450.1:c.13+8026T>C (GIGYF2) | ENSP00000503420.1:n.13+8026T>C | |
| ENST00000677591.1:c.-194-10719T>C (GIGYF2) | ENSP00000503061.1:n.-194-10719T>C | |
| ENST00000678230.1:c.25+10452T>C (GIGYF2) | ENSP00000504272.1:n.25+10452T>C | |
| ENST00000678339.1:c.-212-10719T>C (GIGYF2) | ENSP00000503437.1:n.-212-10719T>C | |
| ENST00000678466.1:c.-213+8172T>C (GIGYF2) | ENSP00000504219.1:n.-213+8172T>C | |
| ENST00000233826.3:c.-17+14A>G (KCNJ13) | ENSP00000233826.3:n.-17+14A>G | |
| ENST00000373563.8:c.533-10719T>C (GIGYF2) | ENSP00000362664.4:n.533-10719T>C | |
| ENST00000409196.7:c.533-10719T>C (GIGYF2) | ENSP00000387070.3:n.533-10719T>C | |
| ENST00000409451.7:c.552T>C (GIGYF2) | ENSP00000387170.3:p.Tyr184= | |
| ENST00000409480.5:c.552T>C (GIGYF2) | ENSP00000386765.1:p.Tyr184= | |
| ENST00000409547.5:c.533-10719T>C (GIGYF2) | ENSP00000386537.1:n.533-10719T>C | |
| ENST00000409779.1:c.-17+14A>G (KCNJ13) | ENSP00000386408.1:n.-17+14A>G | |
| ENST00000421778.1:c.13+8026T>C (GIGYF2) | ENSP00000390325.1:n.13+8026T>C | |
| ENST00000423659.5:c.380-10719T>C (GIGYF2) | ENSP00000404195.1:n.380-10719T>C | |
| ENST00000424038.1:c.*138-10719T>C (GIGYF2) | ENSP00000399064.1:n.*138-10719T>C | |
| ENST00000424414.6:c.-194-10719T>C (GIGYF2) | ENSP00000401261.2:n.-194-10719T>C | |
| ENST00000436349.5:c.-212-10719T>C (GIGYF2) | ENSP00000400076.1:n.-212-10719T>C | |
| ENST00000438786.1:c.-24+14A>G (KCNJ13) | ENSP00000407284.1:n.-24+14A>G | |
| ENST00000440945.5:c.533-10719T>C (GIGYF2) | ENSP00000410297.1:n.533-10719T>C | |
| ENST00000445650.5:c.25+10452T>C (GIGYF2) | ENSP00000392218.1:n.25+10452T>C | |
| ENST00000455139.5:c.-213+8172T>C (GIGYF2) | ENSP00000395299.1:n.-213+8172T>C | |
| ENST00000629305.2:c.552T>C (GIGYF2) | ENSP00000487548.1:p.Tyr184= | |
| NM_001103146.1:c.533-10719T>C (GIGYF2) | NP_001096616.1:n.533-10719T>C | |
| NM_001103147.1:c.552T>C (GIGYF2) | NP_001096617.1:p.Tyr184= | |
| NM_001103148.1:c.533-10719T>C (GIGYF2) | NP_001096618.1:n.533-10719T>C | |
| NM_001172416.1:c.-17+14A>G (KCNJ13) | NP_001165887.1:n.-17+14A>G | |
| NM_001172417.1:c.-24+14A>G (KCNJ13) | NP_001165888.1:n.-24+14A>G | |
| NM_002242.4:c.-17+14A>G (KCNJ13) MANE Select | NP_002233.2:n.-17+14A>G | |
| NM_015575.3:c.533-10719T>C (GIGYF2) | NP_056390.2:n.533-10719T>C | |
| NR_103492.1:n.646-10719T>C (GIGYF2) | ||
| NM_001103146.3:c.533-10719T>C (GIGYF2) MANE Select | NP_001096616.1:n.533-10719T>C | |
| NM_001103147.2:c.552T>C (GIGYF2) | NP_001096617.1:p.Tyr184= | |
| NM_001103148.2:c.533-10719T>C (GIGYF2) | NP_001096618.1:n.533-10719T>C | |
| NM_015575.4:c.533-10719T>C (GIGYF2) | NP_056390.2:n.533-10719T>C |