Linked Data
ClinVar Variation Id:
931300
ClinVar RCV Id:
RCV001197744
dbSNP Id:
rs192349677
ExAC:
7:107556123 A / G
gnomAD v2:
7-107556123-A-G
gnomAD v3:
7-107915678-A-G
gnomAD v4:
7-107915678-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107915678A>G , CM000669.2:g.107915678A>G | GRCh38 |
| NC_000007.13:g.107556123A>G , CM000669.1:g.107556123A>G | GRCh37 |
| NC_000007.12:g.107343359A>G | NCBI36 |
| NG_008045.1:g.29538A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.857A>G MANE Select | ENSP00000205402.3:p.Asp286Gly | |
| ENST00000205402.9:c.857A>G | ENSP00000205402.3:p.Asp286Gly | |
| ENST00000415325.5:c.*531A>G | ENSP00000402593.1:n.*531A>G | |
| ENST00000417551.5:c.857A>G | ENSP00000390667.1:p.Asp286Gly | |
| ENST00000437604.6:c.713A>G | ENSP00000387542.2:p.Asp238Gly | |
| ENST00000440410.5:c.788A>G | ENSP00000417016.1:p.Asp263Gly | |
| NM_000108.4:c.857A>G | NP_000099.2:p.Asp286Gly | |
| NM_001289750.1:c.560A>G | NP_001276679.1:p.Asp187Gly | |
| NM_001289751.1:c.788A>G | NP_001276680.1:p.Asp263Gly | |
| NM_001289752.1:c.713A>G | NP_001276681.1:p.Asp238Gly | |
| NM_000108.5:c.857A>G MANE Select | NP_000099.2:p.Asp286Gly |