Linked Data
dbSNP Id:
rs1212312435
gnomAD v2:
2-242707214-G-T
gnomAD v3:
2-241767799-G-T
gnomAD v4:
2-241767799-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767799G>T , CM000664.2:g.241767799G>T | GRCh38 |
| NC_000002.11:g.242707214G>T , CM000664.1:g.242707214G>T | GRCh37 |
| NC_000002.10:g.242355887G>T | NCBI36 |
| NG_012012.1:g.38185G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1396G>T MANE Select | ENSP00000315351.4:p.Ala466Ser | |
| ENST00000321264.8:c.1396G>T | ENSP00000315351.4:p.Ala466Ser | |
| ENST00000400769.6:c.*146G>T | ENSP00000383580.2:n.*146G>T | |
| ENST00000403782.5:c.994G>T | ENSP00000384723.1:p.Ala332Ser | |
| ENST00000436747.5:c.*2632G>T | ENSP00000400212.1:n.*2632G>T | |
| ENST00000445308.1:c.792G>T | ||
| ENST00000468064.5:n.1286G>T | ||
| ENST00000470343.5:n.877G>T | ||
| ENST00000473126.1:n.595G>T | ||
| ENST00000486953.5:n.1220G>T | ||
| ENST00000610344.1:c.*240G>T | ENSP00000481906.1:n.*240G>T | |
| NM_001287249.1:c.994G>T | NP_001274178.1:p.Ala332Ser | |
| NM_152783.4:c.1396G>T | NP_689996.4:p.Ala466Ser | |
| NR_109778.1:n.1318G>T | ||
| XM_011511734.1:c.1516G>T | XP_011510036.1:p.Ala506Ser | |
| XM_011511735.1:c.1474G>T | XP_011510037.1:p.Ala492Ser | |
| XM_011511736.1:c.1438G>T | XP_011510038.1:p.Ala480Ser | |
| XM_011511750.1:c.*63G>T | XP_011510052.1:n.*63G>T | |
| XM_011511754.1:c.955G>T | XP_011510056.1:p.Ala319Ser | |
| XM_011511755.1:c.946G>T | XP_011510057.1:p.Ala316Ser | |
| XM_011511756.1:c.943G>T | XP_011510058.1:p.Ala315Ser | |
| XR_923004.1:n.2028G>T | ||
| XR_923007.1:n.1738G>T | ||
| XR_923011.1:n.1839G>T | ||
| NM_001352824.1:c.835G>T | NP_001339753.1:p.Ala279Ser | |
| XM_011511734.2:c.1516G>T | XP_011510036.1:p.Ala506Ser | |
| XM_011511735.2:c.1474G>T | XP_011510037.1:p.Ala492Ser | |
| XM_011511736.2:c.1438G>T | XP_011510038.1:p.Ala480Ser | |
| XM_011511750.3:c.*63G>T | XP_011510052.1:n.*63G>T | |
| XM_011511756.2:c.943G>T | XP_011510058.1:p.Ala315Ser | |
| XM_024453102.1:c.1288G>T | XP_024308870.1:p.Ala430Ser | |
| XR_001738918.2:n.1770G>T | ||
| XR_001738919.2:n.1704G>T | ||
| XR_923004.3:n.2027G>T | ||
| XR_923007.3:n.1737G>T | ||
| XR_923011.3:n.1838G>T | ||
| NM_152783.5:c.1396G>T MANE Select | NP_689996.4:p.Ala466Ser | |
| NM_001287249.2:c.994G>T | NP_001274178.1:p.Ala332Ser | |
| NM_001352824.2:c.835G>T | NP_001339753.1:p.Ala279Ser | |
| NR_109778.2:n.1267G>T |