Linked Data
ClinVar Variation Id:
1407972
dbSNP Id:
rs1567314296
gnomAD v3:
15-48234892-A-G
gnomAD v4:
15-48234892-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48234892A>G , CM000677.2:g.48234892A>G | GRCh38 |
| NC_000015.9:g.48527089A>G , CM000677.1:g.48527089A>G | GRCh37 |
| NC_000015.8:g.46314381A>G | NCBI36 |
| NG_021301.1:g.33592A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686073.1:c.1103A>G | ENSP00000508901.1:p.Glu368Gly | |
| ENST00000380993.8:c.1103A>G MANE Select | ENSP00000370381.3:p.Glu368Gly | |
| ENST00000646012.1:c.1241A>G | ENSP00000495813.1:p.Glu414Gly | |
| ENST00000647232.1:c.1103A>G | ENSP00000493875.1:p.Glu368Gly | |
| ENST00000647546.1:c.1103A>G | ENSP00000495332.1:p.Glu368Gly | |
| ENST00000330289.10:c.1103A>G | ENSP00000331550.6:p.Glu368Gly | |
| ENST00000380993.7:c.1103A>G | ENSP00000370381.3:p.Glu368Gly | |
| ENST00000396577.7:c.1103A>G | ENSP00000379822.3:p.Glu368Gly | |
| ENST00000558252.5:n.5226A>G | ||
| ENST00000558405.5:c.1103A>G | ENSP00000453409.1:p.Glu368Gly | |
| ENST00000558805.1:c.130A>G | ||
| ENST00000559641.5:c.542A>G | ENSP00000453230.1:p.Glu181Gly | |
| ENST00000559723.2:n.476A>G | ||
| ENST00000560692.5:n.5242A>G | ||
| NM_000338.2:c.1103A>G | NP_000329.2:p.Glu368Gly | |
| NM_001184832.1:c.1103A>G | NP_001171761.1:p.Glu368Gly | |
| XM_005254605.1:c.1199A>G | XP_005254662.1:p.Glu400Gly | |
| XM_005254606.1:c.1103A>G | XP_005254663.1:p.Glu368Gly | |
| XM_006720656.1:c.1199A>G | XP_006720719.1:p.Glu400Gly | |
| XR_931896.1:n.1415A>G | ||
| XM_005254606.2:c.1103A>G | XP_005254663.1:p.Glu368Gly | |
| NM_000338.3:c.1103A>G MANE Select | NP_000329.2:p.Glu368Gly | |
| NM_001184832.2:c.1103A>G | NP_001171761.1:p.Glu368Gly | |
| NM_001384136.1:c.1103A>G | NP_001371065.1:p.Glu368Gly |