Linked Data
ClinVar Variation Id:
418272
dbSNP Id:
rs914460959
gnomAD v2:
11-2549208-A-G
gnomAD v3:
11-2527978-A-G
gnomAD v4:
11-2527978-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2527978A>G , CM000673.2:g.2527978A>G | GRCh38 |
| NC_000011.9:g.2549208A>G , CM000673.1:g.2549208A>G | GRCh37 |
| NC_000011.8:g.2505784A>G | NCBI36 |
| NG_008935.1:g.87988A>G , LRG_287:g.87988A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.176A>G | ENSP00000434560.2:p.Glu59Gly | |
| ENST00000646564.2:c.437A>G | ENSP00000495806.2:p.Glu146Gly | |
| ENST00000155840.12:c.437A>G MANE Select | ENSP00000155840.2:p.Glu146Gly | |
| ENST00000335475.6:c.56A>G | ENSP00000334497.5:p.Glu19Gly | |
| ENST00000646564.1:c.83A>G | ENSP00000495806.1:p.Glu28Gly | |
| ENST00000155840.9:c.437A>G | ENSP00000155840.2:p.Glu146Gly | |
| ENST00000335475.5:c.56A>G | ENSP00000334497.5:p.Glu19Gly | |
| ENST00000496887.6:c.176A>G | ENSP00000434560.1:p.Glu59Gly | |
| NM_000218.2:c.437A>G , LRG_287t1:c.437A>G | NP_000209.2:p.Glu146Gly | |
| NM_181798.1:c.56A>G , LRG_287t2:c.56A>G | NP_861463.1:p.Glu19Gly | |
| NM_000218.3:c.437A>G MANE Select | NP_000209.2:p.Glu146Gly |