Linked Data
ClinVar Variation Id:
1898863
ClinVar RCV Id:
RCV002574127
dbSNP Id:
rs760655614
ExAC:
1:227172328 A / G
gnomAD v2:
1-227172328-A-G
gnomAD v3:
1-226984627-A-G
gnomAD v4:
1-226984627-A-G
COSMIC:
COSM134006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226984627A>G , CM000663.2:g.226984627A>G | GRCh38 |
| NC_000001.10:g.227172328A>G , CM000663.1:g.227172328A>G | GRCh37 |
| NC_000001.9:g.225238951A>G | NCBI36 |
| NG_012825.1:g.49391A>G | |
| NG_012825.2:g.92092A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366777.4:c.1478A>G MANE Select | ENSP00000355739.3:p.Asn493Ser | |
| ENST00000366779.6:c.*6205A>G | ENSP00000355741.2:n.*6205A>G | |
| ENST00000366777.3:c.1478A>G | ENSP00000355739.3:p.Asn493Ser | |
| ENST00000366778.5:c.1322A>G | ENSP00000355740.1:p.Asn441Ser | |
| ENST00000366779.5:c.1478A>G | ENSP00000355741.1:p.Asn493Ser | |
| ENST00000478406.5:n.2340A>G | ||
| ENST00000479852.1:n.665A>G | ||
| ENST00000485462.5:n.868A>G | ||
| NM_020247.4:c.1478A>G | NP_064632.2:p.Asn493Ser | |
| XM_005273201.1:c.1478A>G | XP_005273258.1:p.Asn493Ser | |
| XM_011544238.1:c.1478A>G | XP_011542540.1:p.Asn493Ser | |
| XM_011544239.1:c.1478A>G | XP_011542541.1:p.Asn493Ser | |
| XM_011544240.1:c.1478A>G | XP_011542542.1:p.Asn493Ser | |
| XM_011544241.1:c.1478A>G | XP_011542543.1:p.Asn493Ser | |
| XM_011544239.2:c.1478A>G | XP_011542541.1:p.Asn493Ser | |
| XM_011544241.2:c.1478A>G | XP_011542543.1:p.Asn493Ser | |
| XM_017001852.1:c.1478A>G | XP_016857341.1:p.Asn493Ser | |
| XM_024448517.1:c.1478A>G | XP_024304285.1:p.Asn493Ser | |
| XM_024448518.1:c.1478A>G | XP_024304286.1:p.Asn493Ser | |
| NM_020247.5:c.1478A>G MANE Select | NP_064632.2:p.Asn493Ser |