Linked Data
ClinVar Variation Id:
430898
ClinVar RCV Id:
RCV000590988
dbSNP Id:
rs1555787599
gnomAD v4:
20-427395-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.427395G>T , CM000682.2:g.427395G>T | GRCh38 |
| NC_000020.10:g.408039G>T , CM000682.1:g.408039G>T | GRCh37 |
| NC_000020.9:g.356039G>T | NCBI36 |
| NG_033233.1:g.24331G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468272.2:n.1135G>T (RBCK1) | ||
| ENST00000621487.2:n.948G>T (RBCK1) | ||
| ENST00000697804.1:c.1112G>T (RBCK1) | ENSP00000513444.1:p.Cys371Phe | |
| ENST00000697805.1:c.1163G>T (RBCK1) | ENSP00000513446.1:p.Cys388Phe | |
| ENST00000697807.1:n.2182G>T (RBCK1) | ||
| ENST00000697808.1:n.536G>T (RBCK1) | ||
| ENST00000697809.1:n.536G>T (RBCK1) | ||
| ENST00000697810.1:n.526G>T (RBCK1) | ||
| ENST00000356286.10:c.1112G>T (RBCK1) MANE Select | ENSP00000348632.6:p.Cys371Phe | |
| ENST00000640614.1:c.602G>T (RBCK1) | ENSP00000491402.1:p.Cys201Phe | |
| ENST00000680792.1:c.*196-3121C>A (TBC1D20) | ENSP00000506012.1:n.*196-3121C>A | |
| ENST00000353660.7:c.986G>T (RBCK1) | ENSP00000254960.5:p.Cys329Phe | |
| ENST00000356286.9:c.1112G>T (RBCK1) | ENSP00000348632.5:p.Cys371Phe | |
| ENST00000382181.2:c.602G>T (RBCK1) | ENSP00000371616.2:p.Cys201Phe | |
| ENST00000382214.7:c.*76G>T (RBCK1) | ENSP00000371649.3:n.*76G>T | |
| ENST00000415942.5:c.*132G>T (RBCK1) | ENSP00000405288.1:n.*132G>T | |
| ENST00000468272.1:n.168G>T (RBCK1) | ||
| ENST00000621487.1:n.380G>T (RBCK1) | ||
| NM_006462.4:c.986G>T (RBCK1) | NP_006453.1:p.Cys329Phe | |
| NM_031229.2:c.1112G>T (RBCK1) | NP_112506.2:p.Cys371Phe | |
| XM_005260645.1:c.1163G>T (RBCK1) | XP_005260702.1:p.Cys388Phe | |
| XM_011529137.1:c.1286G>T (RBCK1) | XP_011527439.1:p.Cys429Phe | |
| XM_011529138.1:c.1235G>T (RBCK1) | XP_011527440.1:p.Cys412Phe | |
| XM_011529139.1:c.1286G>T (RBCK1) | XP_011527441.1:p.Cys429Phe | |
| XR_430267.1:n.1410G>T (RBCK1) | ||
| XR_937029.1:n.1578G>T (RBCK1) | ||
| NM_001323956.1:c.602G>T (RBCK1) | NP_001310885.1:p.Cys201Phe | |
| NM_001323958.1:c.602G>T (RBCK1) | NP_001310887.1:p.Cys201Phe | |
| NM_006462.5:c.986G>T (RBCK1) | NP_006453.1:p.Cys329Phe | |
| NM_031229.3:c.1112G>T (RBCK1) | NP_112506.2:p.Cys371Phe | |
| NR_136659.1:n.1795G>T (RBCK1) | ||
| XM_005260645.2:c.1163G>T (RBCK1) | XP_005260702.1:p.Cys388Phe | |
| XM_011529137.2:c.1286G>T (RBCK1) | XP_011527439.1:p.Cys429Phe | |
| XM_011529139.3:c.1286G>T (RBCK1) | XP_011527441.1:p.Cys429Phe | |
| XM_017027594.2:c.602G>T (RBCK1) | XP_016883083.1:p.Cys201Phe | |
| XM_017027595.1:c.602G>T (RBCK1) | XP_016883084.1:p.Cys201Phe | |
| XR_001754130.2:n.1584G>T (RBCK1) | ||
| XR_001754131.1:n.1410G>T (RBCK1) | ||
| XR_937029.3:n.1584G>T (RBCK1) | ||
| NM_001323958.2:c.602G>T (RBCK1) | NP_001310887.1:p.Cys201Phe | |
| NM_006462.6:c.986G>T (RBCK1) | NP_006453.1:p.Cys329Phe | |
| NM_031229.4:c.1112G>T (RBCK1) MANE Select | NP_112506.2:p.Cys371Phe | |
| NR_136659.2:n.1546G>T (RBCK1) | ||
| NM_001323956.2:c.602G>T (RBCK1) | NP_001310885.1:p.Cys201Phe |