Linked Data
ClinVar Variation Id:
543209
dbSNP Id:
rs750971084
ExAC:
7:30661999 G / A
gnomAD v2:
7-30661999-G-A
gnomAD v3:
7-30622383-G-A
gnomAD v4:
7-30622383-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30622383G>A , CM000669.2:g.30622383G>A | GRCh38 |
| NC_000007.13:g.30661999G>A , CM000669.1:g.30661999G>A | GRCh37 |
| NC_000007.12:g.30628524G>A | NCBI36 |
| NG_007942.1:g.32819G>A , LRG_243:g.32819G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.1534G>A MANE Select | ENSP00000373918.3:p.Ala512Thr | |
| ENST00000444666.6:c.1534G>A | ENSP00000415447.2:p.Ala512Thr | |
| ENST00000470392.2:n.1624G>A | ||
| ENST00000478124.6:n.1597G>A | ||
| ENST00000485784.2:n.1613G>A | ||
| ENST00000674616.1:c.*1248G>A | ENSP00000502408.1:n.*1248G>A | |
| ENST00000674643.1:c.*634G>A | ENSP00000501636.1:n.*634G>A | |
| ENST00000674734.1:n.2846G>A | ||
| ENST00000674737.1:c.*872G>A | ENSP00000502464.1:n.*872G>A | |
| ENST00000674807.1:c.1534G>A | ENSP00000502814.1:p.Ala512Thr | |
| ENST00000674815.1:c.1165G>A | ENSP00000502799.1:p.Ala389Thr | |
| ENST00000674851.1:c.1165G>A | ENSP00000502451.1:p.Ala389Thr | |
| ENST00000674969.1:n.3407G>A | ||
| ENST00000675051.1:c.1333G>A | ENSP00000502296.1:p.Ala445Thr | |
| ENST00000675529.1:c.*1404G>A | ENSP00000501655.1:n.*1404G>A | |
| ENST00000675587.1:n.2366G>A | ||
| ENST00000675651.1:c.1534G>A | ENSP00000502513.1:p.Ala512Thr | |
| ENST00000675693.1:c.1366G>A | ENSP00000502174.1:p.Ala456Thr | |
| ENST00000675810.1:c.1432G>A | ENSP00000502743.1:p.Ala478Thr | |
| ENST00000675859.1:c.1534G>A | ENSP00000502033.1:p.Ala512Thr | |
| ENST00000675863.1:n.1542G>A | ||
| ENST00000675886.1:n.7574G>A | ||
| ENST00000676088.1:c.*1476G>A | ENSP00000501884.1:n.*1476G>A | |
| ENST00000676140.1:c.*479G>A | ENSP00000502571.1:n.*479G>A | |
| ENST00000676164.1:c.*985G>A | ENSP00000501986.1:n.*985G>A | |
| ENST00000676210.1:c.*823G>A | ENSP00000502373.1:n.*823G>A | |
| ENST00000676259.1:c.*966G>A | ENSP00000501980.1:n.*966G>A | |
| ENST00000676403.1:c.1534G>A | ENSP00000502681.1:p.Ala512Thr | |
| ENST00000389266.7:c.1534G>A | ENSP00000373918.3:p.Ala512Thr | |
| ENST00000444666.5:c.55G>A | ENSP00000415447.1:p.Ala19Thr | |
| ENST00000470392.1:n.256G>A | ||
| ENST00000478124.5:n.1572G>A | ||
| NM_001316772.1:c.1372G>A | NP_001303701.1:p.Ala458Thr | |
| NM_002047.2:c.1534G>A , LRG_243t1:c.1534G>A | NP_002038.2:p.Ala512Thr | |
| NM_002047.3:c.1534G>A | NP_002038.2:p.Ala512Thr | |
| XM_006715686.1:c.1165G>A | XP_006715749.1:p.Ala389Thr | |
| XM_006715686.2:c.1165G>A | XP_006715749.1:p.Ala389Thr | |
| NM_002047.4:c.1534G>A MANE Select | NP_002038.2:p.Ala512Thr |