Linked Data
ClinVar Variation Id:
319211
ClinVar RCV Id:
RCV000322055
dbSNP Id:
rs771450245
ExAC:
16:4383519 C / T
gnomAD v2:
16-4383519-C-T
gnomAD v3:
16-4333518-C-T
gnomAD v4:
16-4333518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4333518C>T , CM000678.2:g.4333518C>T | GRCh38 |
| NC_000016.9:g.4383519C>T , CM000678.1:g.4383519C>T | GRCh37 |
| NC_000016.8:g.4323520C>T | NCBI36 |
| NG_016391.1:g.6295C>T | |
| NG_016391.2:g.23758C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433375.2:c.344C>T (GLIS2) MANE Select | ENSP00000395547.1:p.Ser115Leu | |
| ENST00000262366.7:c.344C>T (GLIS2) | ENSP00000262366.3:p.Ser115Leu | |
| ENST00000433375.1:c.344C>T (GLIS2) | ENSP00000395547.1:p.Ser115Leu | |
| ENST00000577031.5:c.292-1744G>A (PAM16) | ENSP00000459113.1:n.292-1744G>A | |
| NM_032575.2:c.344C>T (GLIS2) | NP_115964.2:p.Ser115Leu | |
| XM_005255641.3:c.344C>T (GLIS2) | XP_005255698.1:p.Ser115Leu | |
| XM_005255642.2:c.344C>T (GLIS2) | XP_005255699.1:p.Ser115Leu | |
| NM_001318918.1:c.344C>T (GLIS2) | NP_001305847.1:p.Ser115Leu | |
| XM_005255641.4:c.344C>T (GLIS2) | XP_005255698.1:p.Ser115Leu | |
| NM_032575.3:c.344C>T (GLIS2) MANE Select | NP_115964.2:p.Ser115Leu | |
| NM_001318918.2:c.344C>T (GLIS2) | NP_001305847.1:p.Ser115Leu |