Linked Data
dbSNP Id:
rs768238728
ExAC:
2:242707238 G / A
gnomAD v2:
2-242707238-G-A
gnomAD v3:
2-241767823-G-A
gnomAD v4:
2-241767823-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767823G>A , CM000664.2:g.241767823G>A | GRCh38 |
| NC_000002.11:g.242707238G>A , CM000664.1:g.242707238G>A | GRCh37 |
| NC_000002.10:g.242355911G>A | NCBI36 |
| NG_012012.1:g.38209G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1420G>A MANE Select | ENSP00000315351.4:p.Ala474Thr | |
| ENST00000321264.8:c.1420G>A | ENSP00000315351.4:p.Ala474Thr | |
| ENST00000400769.6:c.*170G>A | ENSP00000383580.2:n.*170G>A | |
| ENST00000403782.5:c.1018G>A | ENSP00000384723.1:p.Ala340Thr | |
| ENST00000436747.5:c.*2656G>A | ENSP00000400212.1:n.*2656G>A | |
| ENST00000445308.1:c.816G>A | ||
| ENST00000468064.5:n.1310G>A | ||
| ENST00000470343.5:n.901G>A | ||
| ENST00000473126.1:n.619G>A | ||
| ENST00000486953.5:n.1244G>A | ||
| ENST00000610344.1:c.*264G>A | ENSP00000481906.1:n.*264G>A | |
| NM_001287249.1:c.1018G>A | NP_001274178.1:p.Ala340Thr | |
| NM_152783.4:c.1420G>A | NP_689996.4:p.Ala474Thr | |
| NR_109778.1:n.1342G>A | ||
| XM_011511734.1:c.1540G>A | XP_011510036.1:p.Ala514Thr | |
| XM_011511735.1:c.1498G>A | XP_011510037.1:p.Ala500Thr | |
| XM_011511736.1:c.1462G>A | XP_011510038.1:p.Ala488Thr | |
| XM_011511750.1:c.*87G>A | XP_011510052.1:n.*87G>A | |
| XM_011511754.1:c.979G>A | XP_011510056.1:p.Ala327Thr | |
| XM_011511755.1:c.970G>A | XP_011510057.1:p.Ala324Thr | |
| XM_011511756.1:c.967G>A | XP_011510058.1:p.Ala323Thr | |
| XR_923004.1:n.2052G>A | ||
| XR_923007.1:n.1762G>A | ||
| XR_923011.1:n.1863G>A | ||
| NM_001352824.1:c.859G>A | NP_001339753.1:p.Ala287Thr | |
| XM_011511734.2:c.1540G>A | XP_011510036.1:p.Ala514Thr | |
| XM_011511735.2:c.1498G>A | XP_011510037.1:p.Ala500Thr | |
| XM_011511736.2:c.1462G>A | XP_011510038.1:p.Ala488Thr | |
| XM_011511750.3:c.*87G>A | XP_011510052.1:n.*87G>A | |
| XM_011511756.2:c.967G>A | XP_011510058.1:p.Ala323Thr | |
| XM_024453102.1:c.1312G>A | XP_024308870.1:p.Ala438Thr | |
| XR_001738918.2:n.1794G>A | ||
| XR_001738919.2:n.1728G>A | ||
| XR_923004.3:n.2051G>A | ||
| XR_923007.3:n.1761G>A | ||
| XR_923011.3:n.1862G>A | ||
| NM_152783.5:c.1420G>A MANE Select | NP_689996.4:p.Ala474Thr | |
| NM_001287249.2:c.1018G>A | NP_001274178.1:p.Ala340Thr | |
| NM_001352824.2:c.859G>A | NP_001339753.1:p.Ala287Thr | |
| NR_109778.2:n.1291G>A |