Linked Data
ClinVar Variation Id:
129161
dbSNP Id:
rs142544510
ExAC:
10:88854185 A / G
gnomAD v2:
10-88854185-A-G
gnomAD v3:
10-87094428-A-G
gnomAD v4:
10-87094428-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87094428A>G , CM000672.2:g.87094428A>G | GRCh38 |
| NC_000010.10:g.88854185A>G , CM000672.1:g.88854185A>G | GRCh37 |
| NC_000010.9:g.88844165A>G | NCBI36 |
| NG_013010.1:g.5592T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682396.1:c.33T>C (GLUD1) | ENSP00000506764.1:p.His11= | |
| ENST00000682622.1:c.342T>C (GLUD1) | ENSP00000506732.1:p.His114= | |
| ENST00000682833.1:c.241T>C (GLUD1) | ||
| ENST00000683022.1:c.23T>C (GLUD1) | ||
| ENST00000684201.1:c.342T>C (GLUD1) | ENSP00000507887.1:p.His114= | |
| ENST00000684338.1:c.342T>C (GLUD1) | ENSP00000507457.1:p.His114= | |
| ENST00000277865.5:c.342T>C (GLUD1) MANE Select | ENSP00000277865.4:p.His114= | |
| ENST00000277865.4:c.342T>C (GLUD1) | ENSP00000277865.4:p.His114= | |
| ENST00000437629.6:c.-422A>G (SHLD2) | ENSP00000475647.1:n.-422A>G | |
| NM_005271.3:c.342T>C (GLUD1) | NP_005262.1:p.His114= | |
| NM_001318904.1:c.-387T>C (GLUD1) | NP_001305833.1:n.-387T>C | |
| NM_001318905.1:c.-513T>C (GLUD1) | NP_001305834.1:n.-513T>C | |
| NM_001318906.1:c.-220T>C (GLUD1) | NP_001305835.1:n.-220T>C | |
| NM_005271.4:c.342T>C (GLUD1) | NP_005262.1:p.His114= | |
| NM_005271.5:c.342T>C (GLUD1) MANE Select | NP_005262.1:p.His114= | |
| NM_001318904.2:c.-387T>C (GLUD1) | NP_001305833.1:n.-387T>C | |
| NM_001318905.2:c.-513T>C (GLUD1) | NP_001305834.1:n.-513T>C | |
| NM_001318906.2:c.-220T>C (GLUD1) | NP_001305835.1:n.-220T>C |