Linked Data
dbSNP Id:
rs762993594
ExAC:
10:96058197 G / A
gnomAD v2:
10-96058197-G-A
gnomAD v3:
10-94298440-G-A
gnomAD v4:
10-94298440-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298440G>A , CM000672.2:g.94298440G>A | GRCh38 |
| NC_000010.10:g.96058197G>A , CM000672.1:g.96058197G>A | GRCh37 |
| NC_000010.9:g.96048187G>A | NCBI36 |
| NG_015799.1:g.309452G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.4305G>A | ENSP00000360426.1:p.Thr1435= | |
| ENST00000685253.1:c.*1772G>A | ENSP00000509405.1:n.*1772G>A | |
| ENST00000685889.1:n.1964G>A | ||
| ENST00000686807.1:n.648G>A | ||
| ENST00000686954.1:c.*513G>A | ENSP00000508416.1:n.*513G>A | |
| ENST00000688810.1:c.4257G>A | ENSP00000509140.1:p.Thr1419= | |
| ENST00000689233.1:n.9437G>A | ||
| ENST00000690340.1:n.2902G>A | ||
| ENST00000692286.1:c.5097G>A | ENSP00000509490.1:p.Thr1699= | |
| ENST00000692396.1:c.5181G>A | ENSP00000508605.1:p.Thr1727= | |
| ENST00000371380.8:c.5229G>A MANE Select | ENSP00000360431.2:p.Thr1743= | |
| ENST00000371385.8:c.4203G>A | ENSP00000360438.4:p.Thr1401= | |
| ENST00000674738.1:c.3784G>A | ||
| ENST00000674827.1:c.3345G>A | ENSP00000502523.1:p.Thr1115= | |
| ENST00000675218.1:c.4305G>A | ENSP00000501910.1:p.Thr1435= | |
| ENST00000675487.1:c.*1162G>A | ENSP00000502340.1:n.*1162G>A | |
| ENST00000675718.1:c.4498G>A | ||
| ENST00000676102.1:c.4074G>A | ENSP00000502811.1:p.Thr1358= | |
| ENST00000260766.7:c.5229G>A | ENSP00000260766.3:p.Thr1743= | |
| ENST00000371375.1:c.4305G>A | ENSP00000360426.1:p.Thr1435= | |
| ENST00000371380.7:c.5229G>A | ENSP00000360431.2:p.Thr1743= | |
| ENST00000371385.7:c.4305G>A | ENSP00000360438.3:p.Thr1435= | |
| NM_001165979.2:c.4305G>A | NP_001159451.1:p.Thr1435= | |
| NM_001288989.1:c.5181G>A | NP_001275918.1:p.Thr1727= | |
| NM_016341.3:c.5229G>A | NP_057425.3:p.Thr1743= | |
| XM_006717885.2:c.5271G>A | XP_006717948.1:p.Thr1757= | |
| XM_006717886.2:c.5271G>A | XP_006717949.1:p.Thr1757= | |
| XM_006717888.2:c.5268G>A | XP_006717951.1:p.Thr1756= | |
| XM_006717889.2:c.5223G>A | XP_006717952.1:p.Thr1741= | |
| XM_006717890.1:c.4347G>A | XP_006717953.1:p.Thr1449= | |
| XM_011539849.1:c.5271G>A | XP_011538151.1:p.Thr1757= | |
| XM_011539850.1:c.4116G>A | XP_011538152.1:p.Thr1372= | |
| XM_006717885.4:c.5271G>A | XP_006717948.1:p.Thr1757= | |
| XM_006717888.4:c.5268G>A | XP_006717951.1:p.Thr1756= | |
| XM_006717889.4:c.5223G>A | XP_006717952.1:p.Thr1741= | |
| XM_006717890.3:c.4347G>A | XP_006717953.1:p.Thr1449= | |
| XM_011539849.3:c.5271G>A | XP_011538151.1:p.Thr1757= | |
| XM_011539850.3:c.4116G>A | XP_011538152.1:p.Thr1372= | |
| XM_017016310.2:c.5271G>A | XP_016871799.1:p.Thr1757= | |
| XM_017016311.2:c.5271G>A | XP_016871800.1:p.Thr1757= | |
| XM_017016312.2:c.4257G>A | XP_016871801.1:p.Thr1419= | |
| NM_001288989.2:c.5181G>A | NP_001275918.1:p.Thr1727= | |
| NM_016341.4:c.5229G>A MANE Select | NP_057425.3:p.Thr1743= |