Linked Data
ClinVar Variation Id:
335053
dbSNP Id:
rs146797648
ExAC:
2:233633295 C / T
gnomAD v2:
2-233633295-C-T
gnomAD v3:
2-232768585-C-T
gnomAD v4:
2-232768585-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232768585C>T , CM000664.2:g.232768585C>T | GRCh38 |
| NC_000002.11:g.233633295C>T , CM000664.1:g.233633295C>T | GRCh37 |
| NC_000002.10:g.233341539C>T | NCBI36 |
| NG_011847.1:g.76281C>T | |
| NG_016742.1:g.12981G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233826.4:c.689G>A (KCNJ13) MANE Select | ENSP00000233826.3:p.Ser230Asn | |
| ENST00000373563.9:c.532+7149C>T (GIGYF2) MANE Select | ENSP00000362664.5:n.532+7149C>T | |
| ENST00000424038.2:c.*137+7149C>T (GIGYF2) | ENSP00000399064.1:n.*137+7149C>T | |
| ENST00000677450.1:c.13+180C>T (GIGYF2) | ENSP00000503420.1:n.13+180C>T | |
| ENST00000677591.1:c.-195+3975C>T (GIGYF2) | ENSP00000503061.1:n.-195+3975C>T | |
| ENST00000678230.1:c.25+2606C>T (GIGYF2) | ENSP00000504272.1:n.25+2606C>T | |
| ENST00000678339.1:c.-213+3975C>T (GIGYF2) | ENSP00000503437.1:n.-213+3975C>T | |
| ENST00000678466.1:c.-213+326C>T (GIGYF2) | ENSP00000504219.1:n.-213+326C>T | |
| ENST00000233826.3:c.689G>A (KCNJ13) | ENSP00000233826.3:p.Ser230Asn | |
| ENST00000373563.8:c.532+7149C>T (GIGYF2) | ENSP00000362664.4:n.532+7149C>T | |
| ENST00000409196.7:c.532+7149C>T (GIGYF2) | ENSP00000387070.3:n.532+7149C>T | |
| ENST00000409451.7:c.532+7149C>T (GIGYF2) | ENSP00000387170.3:n.532+7149C>T | |
| ENST00000409480.5:c.532+7149C>T (GIGYF2) | ENSP00000386765.1:n.532+7149C>T | |
| ENST00000409547.5:c.532+7149C>T (GIGYF2) | ENSP00000386537.1:n.532+7149C>T | |
| ENST00000409779.1:c.*168G>A (KCNJ13) | ENSP00000386408.1:n.*168G>A | |
| ENST00000410029.1:c.689G>A (KCNJ13) | ENSP00000386251.1:p.Ser230Asn | |
| ENST00000421778.1:c.13+180C>T (GIGYF2) | ENSP00000390325.1:n.13+180C>T | |
| ENST00000423659.5:c.379+12251C>T (GIGYF2) | ENSP00000404195.1:n.379+12251C>T | |
| ENST00000424038.1:c.*137+7149C>T (GIGYF2) | ENSP00000399064.1:n.*137+7149C>T | |
| ENST00000424414.6:c.-195+3975C>T (GIGYF2) | ENSP00000401261.2:n.-195+3975C>T | |
| ENST00000436349.5:c.-213+3975C>T (GIGYF2) | ENSP00000400076.1:n.-213+3975C>T | |
| ENST00000438786.1:c.449G>A (KCNJ13) | ENSP00000407284.1:p.Ser150Asn | |
| ENST00000440945.5:c.532+7149C>T (GIGYF2) | ENSP00000410297.1:n.532+7149C>T | |
| ENST00000444142.1:c.363-137G>A (KCNJ13) | ||
| ENST00000445650.5:c.25+2606C>T (GIGYF2) | ENSP00000392218.1:n.25+2606C>T | |
| ENST00000455139.5:c.-213+326C>T (GIGYF2) | ENSP00000395299.1:n.-213+326C>T | |
| ENST00000463554.5:n.685-2439C>T (GIGYF2) | ||
| ENST00000629305.2:c.532+7149C>T (GIGYF2) | ENSP00000487548.1:n.532+7149C>T | |
| NM_001103146.1:c.532+7149C>T (GIGYF2) | NP_001096616.1:n.532+7149C>T | |
| NM_001103147.1:c.532+7149C>T (GIGYF2) | NP_001096617.1:n.532+7149C>T | |
| NM_001103148.1:c.532+7149C>T (GIGYF2) | NP_001096618.1:n.532+7149C>T | |
| NM_001172416.1:c.*168G>A (KCNJ13) | NP_001165887.1:n.*168G>A | |
| NM_001172417.1:c.449G>A (KCNJ13) | NP_001165888.1:p.Ser150Asn | |
| NM_002242.4:c.689G>A (KCNJ13) MANE Select | NP_002233.2:p.Ser230Asn | |
| NM_015575.3:c.532+7149C>T (GIGYF2) | NP_056390.2:n.532+7149C>T | |
| NR_103492.1:n.645+7149C>T (GIGYF2) | ||
| NM_001103146.3:c.532+7149C>T (GIGYF2) MANE Select | NP_001096616.1:n.532+7149C>T | |
| NM_001103147.2:c.532+7149C>T (GIGYF2) | NP_001096617.1:n.532+7149C>T | |
| NM_001103148.2:c.532+7149C>T (GIGYF2) | NP_001096618.1:n.532+7149C>T | |
| NM_015575.4:c.532+7149C>T (GIGYF2) | NP_056390.2:n.532+7149C>T |