Linked Data
ClinVar Variation Id:
916714
dbSNP Id:
rs768090632
ExAC:
2:73717203 A / G
gnomAD v2:
2-73717203-A-G
gnomAD v3:
2-73490076-A-G
gnomAD v4:
2-73490076-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490076A>G , CM000664.2:g.73490076A>G | GRCh38 |
| NC_000002.11:g.73717203A>G , CM000664.1:g.73717203A>G | GRCh37 |
| NC_000002.10:g.73570711A>G | NCBI36 |
| NG_011690.1:g.109324A>G , LRG_741:g.109324A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7736A>G | ENSP00000507671.1:p.Glu2579Gly | |
| ENST00000682801.1:c.7736A>G | ENSP00000507862.1:p.Glu2579Gly | |
| ENST00000682859.1:c.7736A>G | ENSP00000508222.1:p.Glu2579Gly | |
| ENST00000683791.1:c.1128A>G | ||
| ENST00000684460.1:c.5188A>G | ||
| ENST00000684548.1:c.7736A>G | ENSP00000507421.1:p.Glu2579Gly | |
| ENST00000684590.1:c.2183A>G | ENSP00000507376.1:p.Glu728Gly | |
| ENST00000684656.1:c.5188A>G | ||
| ENST00000613296.6:c.8117A>G MANE Select | ENSP00000482968.1:p.Glu2706Gly | |
| ENST00000651434.1:c.896-29699A>G | ||
| ENST00000423048.5:c.2948A>G | ENSP00000399833.1:p.Glu983Gly | |
| ENST00000484298.5:c.7991A>G | ENSP00000478155.1:p.Glu2664Gly | |
| ENST00000613296.4:c.8117A>G | ENSP00000482968.1:p.Glu2706Gly | |
| ENST00000614410.4:c.8117A>G | ENSP00000479094.1:p.Glu2706Gly | |
| ENST00000620466.4:n.1920A>G | ||
| NM_015120.4:c.8120A>G , LRG_741t1:c.8120A>G | NP_055935.4:p.Glu2707Gly | |
| NM_001378454.1:c.8117A>G MANE Select | NP_001365383.1:p.Glu2706Gly |