Linked Data
ClinVar Variation Id:
1998249
ClinVar RCV Id:
RCV002810328
MyVariant Identifiers:
chr7:g.107557904A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107917459A>G , CM000669.2:g.107917459A>G | GRCh38 |
| NC_000007.13:g.107557904A>G , CM000669.1:g.107557904A>G | GRCh37 |
| NC_000007.12:g.107345140A>G | NCBI36 |
| NG_008045.1:g.31319A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.1233A>G MANE Select | ENSP00000205402.3:p.Glu411= | |
| ENST00000205402.9:c.1233A>G | ENSP00000205402.3:p.Glu411= | |
| ENST00000415325.5:c.*907A>G | ENSP00000402593.1:n.*907A>G | |
| ENST00000417551.5:c.1233A>G | ENSP00000390667.1:p.Glu411= | |
| ENST00000437604.6:c.1089A>G | ENSP00000387542.2:p.Glu363= | |
| ENST00000440410.5:c.1164A>G | ENSP00000417016.1:p.Glu388= | |
| NM_000108.4:c.1233A>G | NP_000099.2:p.Glu411= | |
| NM_001289750.1:c.936A>G | NP_001276679.1:p.Glu312= | |
| NM_001289751.1:c.1164A>G | NP_001276680.1:p.Glu388= | |
| NM_001289752.1:c.1089A>G | NP_001276681.1:p.Glu363= | |
| NM_000108.5:c.1233A>G MANE Select | NP_000099.2:p.Glu411= |