Linked Data
dbSNP Id:
rs769920317
ExAC:
16:4383427 A / G
gnomAD v2:
16-4383427-A-G
gnomAD v3:
16-4333426-A-G
gnomAD v4:
16-4333426-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4333426A>G , CM000678.2:g.4333426A>G | GRCh38 |
| NC_000016.9:g.4383427A>G , CM000678.1:g.4383427A>G | GRCh37 |
| NC_000016.8:g.4323428A>G | NCBI36 |
| NG_016391.1:g.6203A>G | |
| NG_016391.2:g.23666A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433375.2:c.252A>G (GLIS2) MANE Select | ENSP00000395547.1:p.Ser84= | |
| ENST00000262366.7:c.252A>G (GLIS2) | ENSP00000262366.3:p.Ser84= | |
| ENST00000433375.1:c.252A>G (GLIS2) | ENSP00000395547.1:p.Ser84= | |
| ENST00000577031.5:c.292-1652T>C (PAM16) | ENSP00000459113.1:n.292-1652T>C | |
| NM_032575.2:c.252A>G (GLIS2) | NP_115964.2:p.Ser84= | |
| XM_005255641.3:c.252A>G (GLIS2) | XP_005255698.1:p.Ser84= | |
| XM_005255642.2:c.252A>G (GLIS2) | XP_005255699.1:p.Ser84= | |
| NM_001318918.1:c.252A>G (GLIS2) | NP_001305847.1:p.Ser84= | |
| XM_005255641.4:c.252A>G (GLIS2) | XP_005255698.1:p.Ser84= | |
| NM_032575.3:c.252A>G (GLIS2) MANE Select | NP_115964.2:p.Ser84= | |
| NM_001318918.2:c.252A>G (GLIS2) | NP_001305847.1:p.Ser84= |