Linked Data
ClinVar Variation Id:
426397
dbSNP Id:
rs77517267
ExAC:
2:73676189 C / G
gnomAD v2:
2-73676189-C-G
gnomAD v3:
2-73449062-C-G
gnomAD v4:
2-73449062-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73449062C>G , CM000664.2:g.73449062C>G | GRCh38 |
| NC_000002.11:g.73676189C>G , CM000664.1:g.73676189C>G | GRCh37 |
| NC_000002.10:g.73529697C>G | NCBI36 |
| NG_011690.1:g.68310C>G , LRG_741:g.68310C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.2154C>G | ENSP00000507671.1:p.Asp718Glu | |
| ENST00000682801.1:c.2154C>G | ENSP00000507862.1:p.Asp718Glu | |
| ENST00000682859.1:c.2154C>G | ENSP00000508222.1:p.Asp718Glu | |
| ENST00000683791.1:c.685+16771C>G | ||
| ENST00000684548.1:c.2154C>G | ENSP00000507421.1:p.Asp718Glu | |
| ENST00000613296.6:c.2535C>G MANE Select | ENSP00000482968.1:p.Asp845Glu | |
| ENST00000484298.5:c.2409C>G | ENSP00000478155.1:p.Asp803Glu | |
| ENST00000613296.4:c.2535C>G | ENSP00000482968.1:p.Asp845Glu | |
| ENST00000614410.4:c.2535C>G | ENSP00000479094.1:p.Asp845Glu | |
| NM_015120.4:c.2538C>G , LRG_741t1:c.2538C>G | NP_055935.4:p.Asp846Glu | |
| NM_001378454.1:c.2535C>G MANE Select | NP_001365383.1:p.Asp845Glu |