Linked Data
ClinVar Variation Id:
360014
dbSNP Id:
rs538571144
ExAC:
7:30661943 A / G
gnomAD v2:
7-30661943-A-G
gnomAD v3:
7-30622327-A-G
gnomAD v4:
7-30622327-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30622327A>G , CM000669.2:g.30622327A>G | GRCh38 |
| NC_000007.13:g.30661943A>G , CM000669.1:g.30661943A>G | GRCh37 |
| NC_000007.12:g.30628468A>G | NCBI36 |
| NG_007942.1:g.32763A>G , LRG_243:g.32763A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1478A>G MANE Select | ENSP00000373918.3:p.Asn493Ser | |
| ENST00000444666.6:c.1478A>G | ENSP00000415447.2:p.Asn493Ser | |
| ENST00000470392.2:n.1568A>G | ||
| ENST00000478124.6:n.1541A>G | ||
| ENST00000485784.2:n.1557A>G | ||
| ENST00000674616.1:c.*1192A>G | ENSP00000502408.1:n.*1192A>G | |
| ENST00000674643.1:c.*578A>G | ENSP00000501636.1:n.*578A>G | |
| ENST00000674734.1:n.2790A>G | ||
| ENST00000674737.1:c.*816A>G | ENSP00000502464.1:n.*816A>G | |
| ENST00000674807.1:c.1478A>G | ENSP00000502814.1:p.Asn493Ser | |
| ENST00000674815.1:c.1109A>G | ENSP00000502799.1:p.Asn370Ser | |
| ENST00000674851.1:c.1109A>G | ENSP00000502451.1:p.Asn370Ser | |
| ENST00000674969.1:n.3351A>G | ||
| ENST00000675051.1:c.1277A>G | ENSP00000502296.1:p.Asn426Ser | |
| ENST00000675529.1:c.*1348A>G | ENSP00000501655.1:n.*1348A>G | |
| ENST00000675587.1:n.2310A>G | ||
| ENST00000675651.1:c.1478A>G | ENSP00000502513.1:p.Asn493Ser | |
| ENST00000675693.1:c.1310A>G | ENSP00000502174.1:p.Asn437Ser | |
| ENST00000675810.1:c.1376A>G | ENSP00000502743.1:p.Asn459Ser | |
| ENST00000675859.1:c.1478A>G | ENSP00000502033.1:p.Asn493Ser | |
| ENST00000675863.1:n.1486A>G | ||
| ENST00000675886.1:n.7518A>G | ||
| ENST00000676088.1:c.*1420A>G | ENSP00000501884.1:n.*1420A>G | |
| ENST00000676140.1:c.*423A>G | ENSP00000502571.1:n.*423A>G | |
| ENST00000676164.1:c.*929A>G | ENSP00000501986.1:n.*929A>G | |
| ENST00000676210.1:c.*767A>G | ENSP00000502373.1:n.*767A>G | |
| ENST00000676259.1:c.*910A>G | ENSP00000501980.1:n.*910A>G | |
| ENST00000676403.1:c.1478A>G | ENSP00000502681.1:p.Asn493Ser | |
| ENST00000389266.7:c.1478A>G | ENSP00000373918.3:p.Asn493Ser | |
| ENST00000470392.1:n.200A>G | ||
| ENST00000478124.5:n.1516A>G | ||
| NM_001316772.1:c.1316A>G | NP_001303701.1:p.Asn439Ser | |
| NM_002047.2:c.1478A>G , LRG_243t1:c.1478A>G | NP_002038.2:p.Asn493Ser | |
| NM_002047.3:c.1478A>G | NP_002038.2:p.Asn493Ser | |
| XM_006715686.1:c.1109A>G | XP_006715749.1:p.Asn370Ser | |
| XM_006715686.2:c.1109A>G | XP_006715749.1:p.Asn370Ser | |
| NM_002047.4:c.1478A>G MANE Select | NP_002038.2:p.Asn493Ser |