Linked Data
ClinVar Variation Id:
1518508
ClinVar RCV Id:
RCV002021796
dbSNP Id:
rs371434004
ExAC:
16:4383479 C / T
gnomAD v2:
16-4383479-C-T
gnomAD v3:
16-4333478-C-T
gnomAD v4:
16-4333478-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4333478C>T , CM000678.2:g.4333478C>T | GRCh38 |
| NC_000016.9:g.4383479C>T , CM000678.1:g.4383479C>T | GRCh37 |
| NC_000016.8:g.4323480C>T | NCBI36 |
| NG_016391.1:g.6255C>T | |
| NG_016391.2:g.23718C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433375.2:c.304C>T (GLIS2) MANE Select | ENSP00000395547.1:p.Arg102Cys | |
| ENST00000262366.7:c.304C>T (GLIS2) | ENSP00000262366.3:p.Arg102Cys | |
| ENST00000433375.1:c.304C>T (GLIS2) | ENSP00000395547.1:p.Arg102Cys | |
| ENST00000577031.5:c.292-1704G>A (PAM16) | ENSP00000459113.1:n.292-1704G>A | |
| NM_032575.2:c.304C>T (GLIS2) | NP_115964.2:p.Arg102Cys | |
| XM_005255641.3:c.304C>T (GLIS2) | XP_005255698.1:p.Arg102Cys | |
| XM_005255642.2:c.304C>T (GLIS2) | XP_005255699.1:p.Arg102Cys | |
| NM_001318918.1:c.304C>T (GLIS2) | NP_001305847.1:p.Arg102Cys | |
| XM_005255641.4:c.304C>T (GLIS2) | XP_005255698.1:p.Arg102Cys | |
| NM_032575.3:c.304C>T (GLIS2) MANE Select | NP_115964.2:p.Arg102Cys | |
| NM_001318918.2:c.304C>T (GLIS2) | NP_001305847.1:p.Arg102Cys |