Linked Data
ClinVar Variation Id:
543238
dbSNP Id:
rs773316961
ExAC:
7:30671071 G / A
gnomAD v2:
7-30671071-G-A
gnomAD v3:
7-30631455-G-A
gnomAD v4:
7-30631455-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30631455G>A , CM000669.2:g.30631455G>A | GRCh38 |
| NC_000007.13:g.30671071G>A , CM000669.1:g.30671071G>A | GRCh37 |
| NC_000007.12:g.30637596G>A | NCBI36 |
| NG_007942.1:g.41891G>A , LRG_243:g.41891G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1817G>A MANE Select | ENSP00000373918.3:p.Ser606Asn | |
| ENST00000444666.6:c.*238G>A | ENSP00000415447.2:n.*238G>A | |
| ENST00000465748.2:n.1298G>A | ||
| ENST00000470392.2:n.4685G>A | ||
| ENST00000485784.2:n.4674G>A | ||
| ENST00000496643.2:n.2912G>A | ||
| ENST00000674616.1:c.*1531G>A | ENSP00000502408.1:n.*1531G>A | |
| ENST00000674643.1:c.*917G>A | ENSP00000501636.1:n.*917G>A | |
| ENST00000674737.1:c.*1155G>A | ENSP00000502464.1:n.*1155G>A | |
| ENST00000674807.1:c.*90G>A | ENSP00000502814.1:n.*90G>A | |
| ENST00000674815.1:c.1448G>A | ENSP00000502799.1:p.Ser483Asn | |
| ENST00000674851.1:c.1448G>A | ENSP00000502451.1:p.Ser483Asn | |
| ENST00000674969.1:n.3690G>A | ||
| ENST00000675051.1:c.1616G>A | ENSP00000502296.1:p.Ser539Asn | |
| ENST00000675529.1:c.*1687G>A | ENSP00000501655.1:n.*1687G>A | |
| ENST00000675587.1:n.2649G>A | ||
| ENST00000675651.1:c.1817G>A | ENSP00000502513.1:p.Ser606Asn | |
| ENST00000675693.1:c.1649G>A | ENSP00000502174.1:p.Ser550Asn | |
| ENST00000675810.1:c.1715G>A | ENSP00000502743.1:p.Ser572Asn | |
| ENST00000675859.1:c.*83-792G>A | ENSP00000502033.1:n.*83-792G>A | |
| ENST00000675863.1:n.1825G>A | ||
| ENST00000675886.1:n.7857G>A | ||
| ENST00000676088.1:c.*1759G>A | ENSP00000501884.1:n.*1759G>A | |
| ENST00000676140.1:c.*762G>A | ENSP00000502571.1:n.*762G>A | |
| ENST00000676164.1:c.*1268G>A | ENSP00000501986.1:n.*1268G>A | |
| ENST00000676210.1:c.*1106G>A | ENSP00000502373.1:n.*1106G>A | |
| ENST00000676259.1:c.*1249G>A | ENSP00000501980.1:n.*1249G>A | |
| ENST00000676403.1:c.1810-792G>A | ENSP00000502681.1:n.1810-792G>A | |
| ENST00000389266.7:c.1817G>A | ENSP00000373918.3:p.Ser606Asn | |
| ENST00000444666.5:c.472G>A | ENSP00000415447.1:n.472G>A | |
| ENST00000465748.1:n.188G>A | ||
| ENST00000485784.1:n.307G>A | ||
| NM_001316772.1:c.1655G>A | NP_001303701.1:p.Ser552Asn | |
| NM_002047.2:c.1817G>A , LRG_243t1:c.1817G>A | NP_002038.2:p.Ser606Asn | |
| NM_002047.3:c.1817G>A | NP_002038.2:p.Ser606Asn | |
| XM_006715686.1:c.1448G>A | XP_006715749.1:p.Ser483Asn | |
| XM_006715686.2:c.1448G>A | XP_006715749.1:p.Ser483Asn | |
| NM_002047.4:c.1817G>A MANE Select | NP_002038.2:p.Ser606Asn |