Linked Data
ClinVar Variation Id:
360015
ClinVar RCV Id:
RCV000260476
RCV000299292
RCV000432353
RCV000459965
RCV000711740
RCV001095238
RCV001173311
dbSNP Id:
rs3886641
ExAC:
7:30668237 G / A
gnomAD v2:
7-30668237-G-A
gnomAD v3:
7-30628621-G-A
gnomAD v4:
7-30628621-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30628621G>A , CM000669.2:g.30628621G>A | GRCh38 |
| NC_000007.13:g.30668237G>A , CM000669.1:g.30668237G>A | GRCh37 |
| NC_000007.12:g.30634762G>A | NCBI36 |
| NG_007942.1:g.39057G>A , LRG_243:g.39057G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389266.8:c.1761G>A MANE Select | ENSP00000373918.3:p.Thr587= | |
| ENST00000444666.6:c.*182G>A | ENSP00000415447.2:n.*182G>A | |
| ENST00000465748.2:n.1242G>A | ||
| ENST00000470392.2:n.1851G>A | ||
| ENST00000485784.2:n.1840G>A | ||
| ENST00000496643.2:n.78G>A | ||
| ENST00000674616.1:c.*1475G>A | ENSP00000502408.1:n.*1475G>A | |
| ENST00000674643.1:c.*861G>A | ENSP00000501636.1:n.*861G>A | |
| ENST00000674737.1:c.*1099G>A | ENSP00000502464.1:n.*1099G>A | |
| ENST00000674807.1:c.*34G>A | ENSP00000502814.1:n.*34G>A | |
| ENST00000674815.1:c.1392G>A | ENSP00000502799.1:p.Thr464= | |
| ENST00000674851.1:c.1392G>A | ENSP00000502451.1:p.Thr464= | |
| ENST00000674969.1:n.3634G>A | ||
| ENST00000675051.1:c.1560G>A | ENSP00000502296.1:p.Thr520= | |
| ENST00000675529.1:c.*1631G>A | ENSP00000501655.1:n.*1631G>A | |
| ENST00000675587.1:n.2593G>A | ||
| ENST00000675651.1:c.1761G>A | ENSP00000502513.1:p.Thr587= | |
| ENST00000675693.1:c.1593G>A | ENSP00000502174.1:p.Thr531= | |
| ENST00000675810.1:c.1659G>A | ENSP00000502743.1:p.Thr553= | |
| ENST00000675859.1:c.*34G>A | ENSP00000502033.1:n.*34G>A | |
| ENST00000675863.1:n.1769G>A | ||
| ENST00000675886.1:n.7801G>A | ||
| ENST00000676088.1:c.*1703G>A | ENSP00000501884.1:n.*1703G>A | |
| ENST00000676140.1:c.*706G>A | ENSP00000502571.1:n.*706G>A | |
| ENST00000676164.1:c.*1212G>A | ENSP00000501986.1:n.*1212G>A | |
| ENST00000676210.1:c.*1050G>A | ENSP00000502373.1:n.*1050G>A | |
| ENST00000676259.1:c.*1193G>A | ENSP00000501980.1:n.*1193G>A | |
| ENST00000676403.1:c.1761G>A | ENSP00000502681.1:p.Thr587= | |
| ENST00000389266.7:c.1761G>A | ENSP00000373918.3:p.Thr587= | |
| ENST00000444666.5:c.416G>A | ENSP00000415447.1:n.416G>A | |
| ENST00000465748.1:n.132G>A | ||
| NM_001316772.1:c.1599G>A | NP_001303701.1:p.Thr533= | |
| NM_002047.2:c.1761G>A , LRG_243t1:c.1761G>A | NP_002038.2:p.Thr587= | |
| NM_002047.3:c.1761G>A | NP_002038.2:p.Thr587= | |
| XM_006715686.1:c.1392G>A | XP_006715749.1:p.Thr464= | |
| XM_006715686.2:c.1392G>A | XP_006715749.1:p.Thr464= | |
| NM_002047.4:c.1761G>A MANE Select | NP_002038.2:p.Thr587= |