Linked Data
ClinVar Variation Id:
969902
ClinVar RCV Id:
RCV001245354
dbSNP Id:
rs750772995
ExAC:
2:112754938 G / A
gnomAD v2:
2-112754938-G-A
gnomAD v3:
2-111997361-G-A
gnomAD v4:
2-111997361-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111997361G>A , CM000664.2:g.111997361G>A | GRCh38 |
| NC_000002.11:g.112754938G>A , CM000664.1:g.112754938G>A | GRCh37 |
| NC_000002.10:g.112471409G>A | NCBI36 |
| NG_011607.1:g.103748G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.1489G>A MANE Select | ENSP00000295408.4:p.Gly497Ser | |
| ENST00000295408.8:c.1489G>A | ENSP00000295408.4:p.Gly497Ser | |
| ENST00000409780.5:c.961G>A | ENSP00000387277.1:p.Gly321Ser | |
| ENST00000421804.6:c.1489G>A | ENSP00000389152.2:p.Gly497Ser | |
| ENST00000439966.5:c.*962G>A | ENSP00000402129.1:n.*962G>A | |
| ENST00000616902.4:c.458G>A | ENSP00000482824.1:p.Trp153Ter | |
| NM_006343.2:c.1489G>A | NP_006334.2:p.Gly497Ser | |
| XM_005263565.3:c.1489G>A | XP_005263622.1:p.Gly497Ser | |
| XM_005263568.3:c.1489G>A | XP_005263625.1:p.Gly497Ser | |
| XM_011510490.1:c.1300G>A | XP_011508792.1:p.Gly434Ser | |
| XM_011510491.1:c.274G>A | XP_011508793.1:p.Gly92Ser | |
| XM_005263565.4:c.1489G>A | XP_005263622.1:p.Gly497Ser | |
| XM_005263568.4:c.1489G>A | XP_005263625.1:p.Gly497Ser | |
| XM_011510490.3:c.1300G>A | XP_011508792.1:p.Gly434Ser | |
| XM_017003164.1:c.1300G>A | XP_016858653.1:p.Gly434Ser | |
| XM_017003165.2:c.274G>A | XP_016858654.1:p.Gly92Ser | |
| NM_006343.3:c.1489G>A MANE Select | NP_006334.2:p.Gly497Ser |