Linked Data
ClinVar Variation Id:
196569
dbSNP Id:
rs569937790
ExAC:
16:4384988 G / A
gnomAD v2:
16-4384988-G-A
gnomAD v3:
16-4334987-G-A
gnomAD v4:
16-4334987-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4334987G>A , CM000678.2:g.4334987G>A | GRCh38 |
| NC_000016.9:g.4384988G>A , CM000678.1:g.4384988G>A | GRCh37 |
| NC_000016.8:g.4324989G>A | NCBI36 |
| NG_016391.1:g.7764G>A | |
| NG_016391.2:g.25227G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433375.2:c.522+10G>A (GLIS2) MANE Select | ENSP00000395547.1:n.522+10G>A | |
| ENST00000262366.7:c.522+10G>A (GLIS2) | ENSP00000262366.3:n.522+10G>A | |
| ENST00000433375.1:c.522+10G>A (GLIS2) | ENSP00000395547.1:n.522+10G>A | |
| ENST00000577031.5:c.292-3213C>T (PAM16) | ENSP00000459113.1:n.292-3213C>T | |
| NM_032575.2:c.522+10G>A (GLIS2) | NP_115964.2:n.522+10G>A | |
| XM_005255641.3:c.522+10G>A (GLIS2) | XP_005255698.1:n.522+10G>A | |
| XM_005255642.2:c.522+10G>A (GLIS2) | XP_005255699.1:n.522+10G>A | |
| NM_001318918.1:c.522+10G>A (GLIS2) | NP_001305847.1:n.522+10G>A | |
| XM_005255641.4:c.522+10G>A (GLIS2) | XP_005255698.1:n.522+10G>A | |
| NM_032575.3:c.522+10G>A (GLIS2) MANE Select | NP_115964.2:n.522+10G>A | |
| NM_001318918.2:c.522+10G>A (GLIS2) | NP_001305847.1:n.522+10G>A |