Linked Data
ClinVar Variation Id:
262130
dbSNP Id:
rs2789975
ExAC:
1:223116474 G / T
gnomAD v2:
1-223116474-G-T
gnomAD v3:
1-222943132-G-T
gnomAD v4:
1-222943132-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.222943132G>T , CM000663.2:g.222943132G>T | GRCh38 |
| NC_000001.10:g.223116474G>T , CM000663.1:g.223116474G>T | GRCh37 |
| NC_000001.9:g.221183097G>T | NCBI36 |
| NG_009243.2:g.133044G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495684.2:n.163-39948G>T | ||
| ENST00000674709.1:c.147+162G>T | ENSP00000502092.1:n.147+162G>T | |
| ENST00000674736.1:c.147+162G>T | ENSP00000501873.1:n.147+162G>T | |
| ENST00000675039.1:c.309G>T | ENSP00000501574.1:p.Glu103Asp | |
| ENST00000675850.1:c.309G>T MANE Select | ENSP00000502357.1:p.Glu103Asp | |
| ENST00000675961.1:c.309G>T | ENSP00000501808.1:p.Glu103Asp | |
| ENST00000676139.1:c.309G>T | ENSP00000502496.1:p.Glu103Asp | |
| ENST00000676303.1:n.496G>T | ||
| ENST00000284476.7:c.309G>T | ENSP00000284476.6:p.Glu103Asp | |
| ENST00000360254.3:n.629G>T | ||
| ENST00000482856.1:n.456G>T | ||
| NM_032890.3:c.309G>T | NP_116279.2:p.Glu103Asp | |
| XM_005273335.1:c.309G>T | XP_005273392.1:p.Glu103Asp | |
| XM_006711592.1:c.309G>T | XP_006711655.1:p.Glu103Asp | |
| XM_011510072.1:c.309G>T | XP_011508374.1:p.Glu103Asp | |
| XM_011510073.1:c.309G>T | XP_011508375.1:p.Glu103Asp | |
| XM_011510074.1:c.309G>T | XP_011508376.1:p.Glu103Asp | |
| XM_011510075.1:c.309G>T | XP_011508377.1:p.Glu103Asp | |
| XM_011510076.1:c.309G>T | XP_011508378.1:p.Glu103Asp | |
| XM_011510077.1:c.309G>T | XP_011508379.1:p.Glu103Asp | |
| NM_001350630.1:c.-579G>T | NP_001337559.1:n.-579G>T | |
| NM_032890.4:c.309G>T | NP_116279.2:p.Glu103Asp | |
| XM_005273335.2:c.309G>T | XP_005273392.1:p.Glu103Asp | |
| XM_006711592.2:c.309G>T | XP_006711655.1:p.Glu103Asp | |
| XM_011510072.2:c.309G>T | XP_011508374.1:p.Glu103Asp | |
| XM_011510073.2:c.309G>T | XP_011508375.1:p.Glu103Asp | |
| XM_011510074.2:c.309G>T | XP_011508376.1:p.Glu103Asp | |
| XM_011510075.2:c.309G>T | XP_011508377.1:p.Glu103Asp | |
| XM_011510077.2:c.309G>T | XP_011508379.1:p.Glu103Asp | |
| XM_017002611.1:c.309G>T | XP_016858100.1:p.Glu103Asp | |
| NM_001350630.2:c.-579G>T | NP_001337559.1:n.-579G>T | |
| NM_001369594.1:c.309G>T | NP_001356523.1:p.Glu103Asp | |
| NM_001377228.1:c.309G>T | NP_001364157.1:p.Glu103Asp | |
| NM_001377229.1:c.309G>T MANE Select | NP_001364158.1:p.Glu103Asp | |
| NM_032890.5:c.309G>T | NP_116279.2:p.Glu103Asp |