Linked Data
ClinVar Variation Id:
373524
dbSNP Id:
rs184779459
ExAC:
2:73786123 A / G
gnomAD v2:
2-73786123-A-G
gnomAD v3:
2-73558996-A-G
gnomAD v4:
2-73558996-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73558996A>G , CM000664.2:g.73558996A>G | GRCh38 |
| NC_000002.11:g.73786123A>G , CM000664.1:g.73786123A>G | GRCh37 |
| NC_000002.10:g.73639631A>G | NCBI36 |
| NG_011690.1:g.178244A>G , LRG_741:g.178244A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.9857A>G | ENSP00000507671.1:p.Glu3286Gly | |
| ENST00000682801.1:c.9857A>G | ENSP00000507862.1:p.Glu3286Gly | |
| ENST00000682859.1:c.9857A>G | ENSP00000508222.1:p.Glu3286Gly | |
| ENST00000683791.1:c.3089+8559A>G | ||
| ENST00000684460.1:c.7138A>G | ||
| ENST00000684548.1:c.9857A>G | ENSP00000507421.1:p.Glu3286Gly | |
| ENST00000684590.1:c.4304A>G | ENSP00000507376.1:p.Glu1435Gly | |
| ENST00000684656.1:c.7183A>G | ||
| ENST00000613296.6:c.10238A>G MANE Select | ENSP00000482968.1:p.Glu3413Gly | |
| ENST00000651057.1:c.392A>G | ENSP00000498504.1:p.Glu131Gly | |
| ENST00000651434.1:c.1594A>G | ||
| ENST00000652487.1:c.1335A>G | ||
| ENST00000423048.5:c.3729A>G | ENSP00000399833.1:n.3729A>G | |
| ENST00000484298.5:c.10112A>G | ENSP00000478155.1:p.Glu3371Gly | |
| ENST00000613296.4:c.10238A>G | ENSP00000482968.1:p.Glu3413Gly | |
| ENST00000614410.4:c.10238A>G | ENSP00000479094.1:p.Glu3413Gly | |
| ENST00000620466.4:n.4041A>G | ||
| NM_015120.4:c.10241A>G , LRG_741t1:c.10241A>G | NP_055935.4:p.Glu3414Gly | |
| NM_001378454.1:c.10238A>G MANE Select | NP_001365383.1:p.Glu3413Gly |