Linked Data
ClinVar Variation Id:
2954749
ClinVar RCV Id:
RCV003815948
dbSNP Id:
rs1336720183
gnomAD v2:
1-67724417-G-A
gnomAD v3:
1-67258734-G-A
gnomAD v4:
1-67258734-G-A
COSMIC:
COSM5040274
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67258734G>A , CM000663.2:g.67258734G>A | GRCh38 |
| NC_000001.10:g.67724417G>A , CM000663.1:g.67724417G>A | GRCh37 |
| NC_000001.9:g.67497005G>A | NCBI36 |
| NG_011498.1:g.97249G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697149.1:c.1335G>A | ENSP00000513138.1:n.1335G>A | |
| ENST00000697150.1:c.1393G>A | ENSP00000513139.1:n.1393G>A | |
| ENST00000697151.1:c.1326G>A | ENSP00000513140.1:n.1326G>A | |
| ENST00000697164.1:c.1406G>A | ENSP00000513153.1:p.Ser469Asn | |
| ENST00000697165.1:c.1193G>A | ENSP00000513154.1:p.Ser398Asn | |
| ENST00000347310.10:c.1496G>A MANE Select | ENSP00000321345.5:p.Ser499Asn | |
| ENST00000637002.1:c.887G>A | ENSP00000490340.1:p.Ser296Asn | |
| ENST00000347310.9:c.1496G>A | ENSP00000321345.5:p.Ser499Asn | |
| ENST00000395227.2:c.290G>A | ENSP00000378652.2:p.Ser97Asn | |
| ENST00000425614.3:c.731G>A | ENSP00000387640.2:p.Ser244Asn | |
| ENST00000473881.2:c.*322G>A | ENSP00000486667.1:n.*322G>A | |
| NM_144701.2:c.1496G>A | NP_653302.2:p.Ser499Asn | |
| XM_005270516.2:c.734G>A | XP_005270573.1:p.Ser245Asn | |
| XM_011540789.1:c.1586G>A | XP_011539091.1:p.Ser529Asn | |
| XM_011540790.1:c.1496G>A | XP_011539092.1:p.Ser499Asn | |
| XM_011540791.1:c.1496G>A | XP_011539093.1:p.Ser499Asn | |
| XM_011540790.3:c.1496G>A | XP_011539092.1:p.Ser499Asn | |
| XM_011540791.3:c.1496G>A | XP_011539093.1:p.Ser499Asn | |
| XR_001736993.1:n.1576G>A | ||
| NM_144701.3:c.1496G>A MANE Select | NP_653302.2:p.Ser499Asn |