Linked Data
ClinVar Variation Id:
330742
dbSNP Id:
rs527694612
ExAC:
2:112686773 C / G
gnomAD v2:
2-112686773-C-G
gnomAD v3:
2-111929196-C-G
gnomAD v4:
2-111929196-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111929196C>G , CM000664.2:g.111929196C>G | GRCh38 |
| NC_000002.11:g.112686773C>G , CM000664.1:g.112686773C>G | GRCh37 |
| NC_000002.10:g.112403244C>G | NCBI36 |
| NG_011607.1:g.35583C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.138C>G MANE Select | ENSP00000295408.4:p.Asp46Glu | |
| ENST00000295408.8:c.138C>G | ENSP00000295408.4:p.Asp46Glu | |
| ENST00000409780.5:c.-46-15764C>G | ENSP00000387277.1:n.-46-15764C>G | |
| ENST00000421804.6:c.138C>G | ENSP00000389152.2:p.Asp46Glu | |
| ENST00000439966.5:c.138C>G | ENSP00000402129.1:p.Asp46Glu | |
| ENST00000616902.4:c.-1078C>G | ENSP00000482824.1:n.-1078C>G | |
| NM_006343.2:c.138C>G | NP_006334.2:p.Asp46Glu | |
| XM_005263565.3:c.138C>G | XP_005263622.1:p.Asp46Glu | |
| XM_005263568.3:c.138C>G | XP_005263625.1:p.Asp46Glu | |
| XM_011510490.1:c.-52C>G | XP_011508792.1:n.-52C>G | |
| XM_005263565.4:c.138C>G | XP_005263622.1:p.Asp46Glu | |
| XM_005263568.4:c.138C>G | XP_005263625.1:p.Asp46Glu | |
| XM_011510490.3:c.-52C>G | XP_011508792.1:n.-52C>G | |
| XM_017003164.1:c.-52C>G | XP_016858653.1:n.-52C>G | |
| XM_017003165.2:c.-1130C>G | XP_016858654.1:n.-1130C>G | |
| NM_006343.3:c.138C>G MANE Select | NP_006334.2:p.Asp46Glu |