Linked Data
ClinVar Variation Id:
501353
dbSNP Id:
rs142285791
ExAC:
1:10687345 A / G
gnomAD v2:
1-10687345-A-G
gnomAD v3:
1-10627288-A-G
gnomAD v4:
1-10627288-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10627288A>G , CM000663.2:g.10627288A>G | GRCh38 |
| NC_000001.10:g.10687345A>G , CM000663.1:g.10687345A>G | GRCh37 |
| NC_000001.9:g.10609932A>G | NCBI36 |
| NG_008340.1:g.157343A>G | |
| NG_008340.2:g.157343A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.602A>G MANE Select | ENSP00000349016.4:p.Asn201Ser | |
| ENST00000356607.8:c.602A>G | ENSP00000349016.4:p.Asn201Ser | |
| NM_004565.2:c.602A>G | NP_004556.1:p.Asn201Ser | |
| XM_005263470.3:c.410A>G | XP_005263527.1:p.Asn137Ser | |
| XM_011541577.1:c.644A>G | XP_011539879.1:p.Asn215Ser | |
| XM_011541578.1:c.545A>G | XP_011539880.1:p.Asn182Ser | |
| XM_011541579.1:c.515A>G | XP_011539881.1:p.Asn172Ser | |
| XM_011541580.1:c.473A>G | XP_011539882.1:p.Asn158Ser | |
| XM_005263470.5:c.410A>G | XP_005263527.1:p.Asn137Ser | |
| XM_011541577.2:c.644A>G | XP_011539879.1:p.Asn215Ser | |
| XM_011541578.2:c.545A>G | XP_011539880.1:p.Asn182Ser | |
| XM_011541579.3:c.515A>G | XP_011539881.1:p.Asn172Ser | |
| XM_024447651.1:c.410A>G | XP_024303419.1:p.Asn137Ser | |
| NM_004565.3:c.602A>G MANE Select | NP_004556.1:p.Asn201Ser |