Linked Data
ClinVar Variation Id:
319226
dbSNP Id:
rs371022001
ExAC:
16:4387519 G / A
gnomAD v2:
16-4387519-G-A
gnomAD v3:
16-4337518-G-A
gnomAD v4:
16-4337518-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4337518G>A , CM000678.2:g.4337518G>A | GRCh38 |
| NC_000016.9:g.4387519G>A , CM000678.1:g.4387519G>A | GRCh37 |
| NC_000016.8:g.4327520G>A | NCBI36 |
| NG_016391.1:g.10295G>A | |
| NG_016391.2:g.27758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433375.2:c.1569G>A (GLIS2) MANE Select | ENSP00000395547.1:p.Val523= | |
| ENST00000262366.7:c.1569G>A (GLIS2) | ENSP00000262366.3:p.Val523= | |
| ENST00000433375.1:c.1569G>A (GLIS2) | ENSP00000395547.1:p.Val523= | |
| ENST00000577031.5:c.291+3402C>T (PAM16) | ENSP00000459113.1:n.291+3402C>T | |
| NM_032575.2:c.1569G>A (GLIS2) | NP_115964.2:p.Val523= | |
| XM_005255641.3:c.1569G>A (GLIS2) | XP_005255698.1:p.Val523= | |
| XM_005255642.2:c.1569G>A (GLIS2) | XP_005255699.1:p.Val523= | |
| NM_001318918.1:c.1569G>A (GLIS2) | NP_001305847.1:p.Val523= | |
| XM_005255641.4:c.1569G>A (GLIS2) | XP_005255698.1:p.Val523= | |
| NM_032575.3:c.1569G>A (GLIS2) MANE Select | NP_115964.2:p.Val523= | |
| NM_001318918.2:c.1569G>A (GLIS2) | NP_001305847.1:p.Val523= |