Linked Data
ClinVar Variation Id:
403921
dbSNP Id:
rs746702722
ExAC:
2:73786203 A / G
gnomAD v2:
2-73786203-A-G
gnomAD v3:
2-73559076-A-G
gnomAD v4:
2-73559076-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73559076A>G , CM000664.2:g.73559076A>G | GRCh38 |
| NC_000002.11:g.73786203A>G , CM000664.1:g.73786203A>G | GRCh37 |
| NC_000002.10:g.73639711A>G | NCBI36 |
| NG_011690.1:g.178324A>G , LRG_741:g.178324A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.9937A>G | ENSP00000507671.1:p.Arg3313Gly | |
| ENST00000682801.1:c.9937A>G | ENSP00000507862.1:p.Arg3313Gly | |
| ENST00000682859.1:c.9937A>G | ENSP00000508222.1:p.Arg3313Gly | |
| ENST00000683791.1:c.3089+8639A>G | ||
| ENST00000684460.1:c.7218A>G | ||
| ENST00000684548.1:c.9937A>G | ENSP00000507421.1:p.Arg3313Gly | |
| ENST00000684590.1:c.4384A>G | ENSP00000507376.1:p.Arg1462Gly | |
| ENST00000684656.1:c.7263A>G | ||
| ENST00000613296.6:c.10318A>G MANE Select | ENSP00000482968.1:p.Arg3440Gly | |
| ENST00000651057.1:c.472A>G | ENSP00000498504.1:p.Arg158Gly | |
| ENST00000651434.1:c.1674A>G | ||
| ENST00000652487.1:c.1415A>G | ||
| ENST00000423048.5:c.3809A>G | ENSP00000399833.1:n.3809A>G | |
| ENST00000484298.5:c.10192A>G | ENSP00000478155.1:p.Arg3398Gly | |
| ENST00000613296.4:c.10318A>G | ENSP00000482968.1:p.Arg3440Gly | |
| ENST00000614410.4:c.10318A>G | ENSP00000479094.1:p.Arg3440Gly | |
| ENST00000620466.4:n.4121A>G | ||
| NM_015120.4:c.10321A>G , LRG_741t1:c.10321A>G | NP_055935.4:p.Arg3441Gly | |
| NM_001378454.1:c.10318A>G MANE Select | NP_001365383.1:p.Arg3440Gly |