Linked Data
ClinVar Variation Id:
407068
dbSNP Id:
rs773859296
ExAC:
17:38785178 C / G
gnomAD v2:
17-38785178-C-G
gnomAD v3:
17-40628926-C-G
gnomAD v4:
17-40628926-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40628926C>G , CM000679.2:g.40628926C>G | GRCh38 |
| NC_000017.10:g.38785178C>G , CM000679.1:g.38785178C>G | GRCh37 |
| NC_000017.9:g.36038704C>G | NCBI36 |
| NG_032163.1:g.23926G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.*657G>C | ENSP00000466608.2:n.*657G>C | |
| ENST00000348513.12:c.1095G>C MANE Select | ENSP00000323967.6:p.Glu365Asp | |
| ENST00000377808.9:c.*82G>C | ENSP00000367039.4:n.*82G>C | |
| ENST00000400122.8:c.*82G>C | ENSP00000411607.2:n.*82G>C | |
| ENST00000469334.6:n.1693G>C | ||
| ENST00000578044.6:c.885G>C | ENSP00000464511.1:p.Glu295Asp | |
| ENST00000578112.6:c.*892G>C | ENSP00000464501.1:n.*892G>C | |
| ENST00000580419.6:c.*74G>C | ENSP00000462475.2:n.*74G>C | |
| ENST00000642576.1:n.2238G>C | ||
| ENST00000643030.1:n.1718G>C | ||
| ENST00000643255.1:c.*3159G>C | ENSP00000493957.1:n.*3159G>C | |
| ENST00000643318.1:c.885G>C | ENSP00000494771.1:p.Glu295Asp | |
| ENST00000643378.1:n.1650G>C | ||
| ENST00000643683.1:c.1095G>C | ENSP00000496094.1:p.Glu365Asp | |
| ENST00000643893.1:n.1388G>C | ||
| ENST00000644443.1:n.2983G>C | ||
| ENST00000644523.1:n.1141G>C | ||
| ENST00000644527.1:c.867G>C | ENSP00000493974.1:p.Glu289Asp | |
| ENST00000644701.1:c.*82G>C | ENSP00000496097.1:n.*82G>C | |
| ENST00000644909.1:c.*364G>C | ENSP00000493649.1:n.*364G>C | |
| ENST00000645152.1:n.1758G>C | ||
| ENST00000645227.1:c.*783G>C | ENSP00000495021.1:n.*783G>C | |
| ENST00000646242.1:n.7007G>C | ||
| ENST00000646283.1:c.903G>C | ENSP00000494537.1:p.Glu301Asp | |
| ENST00000646401.1:n.2461G>C | ||
| ENST00000646448.1:n.2369G>C | ||
| ENST00000646856.1:c.*971G>C | ENSP00000494505.1:n.*971G>C | |
| ENST00000647294.1:c.*1025G>C | ENSP00000494815.1:n.*1025G>C | |
| ENST00000647508.1:c.990G>C | ENSP00000496445.1:p.Glu330Asp | |
| ENST00000647515.1:c.*626G>C | ENSP00000495857.1:n.*626G>C | |
| ENST00000348513.10:c.1095G>C | ENSP00000323967.6:p.Glu365Asp | |
| ENST00000377808.8:c.*82G>C | ENSP00000367039.4:n.*82G>C | |
| ENST00000400122.7:c.*82G>C | ENSP00000411607.2:n.*82G>C | |
| ENST00000431889.6:c.1041G>C | ENSP00000445370.1:p.Glu347Asp | |
| ENST00000469334.5:n.1682G>C | ||
| ENST00000476049.1:c.*1443G>C | ENSP00000463483.1:n.*1443G>C | |
| ENST00000578044.5:c.885G>C | ENSP00000464511.1:p.Glu295Asp | |
| ENST00000578112.5:c.*892G>C | ENSP00000464501.1:n.*892G>C | |
| ENST00000580419.5:c.990G>C | ENSP00000462475.1:p.Glu330Asp | |
| NM_003079.4:c.1095G>C | NP_003070.3:p.Glu365Asp | |
| NM_003079.5:c.1095G>C MANE Select | NP_003070.3:p.Glu365Asp |