Linked Data
ClinVar Variation Id:
330747
dbSNP Id:
rs35252762
ExAC:
2:112722783 C / A
gnomAD v2:
2-112722783-C-A
gnomAD v3:
2-111965206-C-A
gnomAD v4:
2-111965206-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111965206C>A , CM000664.2:g.111965206C>A | GRCh38 |
| NC_000002.11:g.112722783C>A , CM000664.1:g.112722783C>A | GRCh37 |
| NC_000002.10:g.112439254C>A | NCBI36 |
| NG_011607.1:g.71593C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.773C>A MANE Select | ENSP00000295408.4:p.Ala258Glu | |
| ENST00000295408.8:c.773C>A | ENSP00000295408.4:p.Ala258Glu | |
| ENST00000409780.5:c.245C>A | ENSP00000387277.1:p.Ala82Glu | |
| ENST00000421804.6:c.773C>A | ENSP00000389152.2:p.Ala258Glu | |
| ENST00000439966.5:c.*246C>A | ENSP00000402129.1:n.*246C>A | |
| ENST00000616902.4:c.-443C>A | ENSP00000482824.1:n.-443C>A | |
| NM_006343.2:c.773C>A | NP_006334.2:p.Ala258Glu | |
| XM_005263565.3:c.773C>A | XP_005263622.1:p.Ala258Glu | |
| XM_005263568.3:c.773C>A | XP_005263625.1:p.Ala258Glu | |
| XM_011510490.1:c.584C>A | XP_011508792.1:p.Ala195Glu | |
| XM_005263565.4:c.773C>A | XP_005263622.1:p.Ala258Glu | |
| XM_005263568.4:c.773C>A | XP_005263625.1:p.Ala258Glu | |
| XM_011510490.3:c.584C>A | XP_011508792.1:p.Ala195Glu | |
| XM_017003164.1:c.584C>A | XP_016858653.1:p.Ala195Glu | |
| XM_017003165.2:c.-495C>A | XP_016858654.1:n.-495C>A | |
| NM_006343.3:c.773C>A MANE Select | NP_006334.2:p.Ala258Glu |