Linked Data
dbSNP Id:
rs745612256
ExAC:
2:242707173 C / T
gnomAD v2:
2-242707173-C-T
gnomAD v3:
2-241767758-C-T
gnomAD v4:
2-241767758-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767758C>T , CM000664.2:g.241767758C>T | GRCh38 |
| NC_000002.11:g.242707173C>T , CM000664.1:g.242707173C>T | GRCh37 |
| NC_000002.10:g.242355846C>T | NCBI36 |
| NG_012012.1:g.38144C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1355C>T MANE Select | ENSP00000315351.4:p.Ser452Leu | |
| ENST00000321264.8:c.1355C>T | ENSP00000315351.4:p.Ser452Leu | |
| ENST00000400769.6:c.*105C>T | ENSP00000383580.2:n.*105C>T | |
| ENST00000403782.5:c.953C>T | ENSP00000384723.1:p.Ser318Leu | |
| ENST00000436747.5:c.*2591C>T | ENSP00000400212.1:n.*2591C>T | |
| ENST00000445308.1:c.751C>T | ||
| ENST00000468064.5:n.1245C>T | ||
| ENST00000470343.5:n.836C>T | ||
| ENST00000473126.1:n.554C>T | ||
| ENST00000486953.5:n.1179C>T | ||
| ENST00000610344.1:c.*199C>T | ENSP00000481906.1:n.*199C>T | |
| NM_001287249.1:c.953C>T | NP_001274178.1:p.Ser318Leu | |
| NM_152783.4:c.1355C>T | NP_689996.4:p.Ser452Leu | |
| NR_109778.1:n.1277C>T | ||
| XM_011511734.1:c.1475C>T | XP_011510036.1:p.Ser492Leu | |
| XM_011511735.1:c.1433C>T | XP_011510037.1:p.Ser478Leu | |
| XM_011511736.1:c.1397C>T | XP_011510038.1:p.Ser466Leu | |
| XM_011511744.1:c.*87C>T | XP_011510046.1:n.*87C>T | |
| XM_011511750.1:c.*22C>T | XP_011510052.1:n.*22C>T | |
| XM_011511754.1:c.914C>T | XP_011510056.1:p.Ser305Leu | |
| XM_011511755.1:c.905C>T | XP_011510057.1:p.Ser302Leu | |
| XM_011511756.1:c.902C>T | XP_011510058.1:p.Ser301Leu | |
| XR_923004.1:n.1987C>T | ||
| XR_923007.1:n.1697C>T | ||
| XR_923011.1:n.1798C>T | ||
| NM_001352824.1:c.794C>T | NP_001339753.1:p.Ser265Leu | |
| XM_011511734.2:c.1475C>T | XP_011510036.1:p.Ser492Leu | |
| XM_011511735.2:c.1433C>T | XP_011510037.1:p.Ser478Leu | |
| XM_011511736.2:c.1397C>T | XP_011510038.1:p.Ser466Leu | |
| XM_011511744.2:c.*87C>T | XP_011510046.1:n.*87C>T | |
| XM_011511750.3:c.*22C>T | XP_011510052.1:n.*22C>T | |
| XM_011511756.2:c.902C>T | XP_011510058.1:p.Ser301Leu | |
| XM_024453102.1:c.1247C>T | XP_024308870.1:p.Ser416Leu | |
| XR_001738918.2:n.1729C>T | ||
| XR_001738919.2:n.1663C>T | ||
| XR_923004.3:n.1986C>T | ||
| XR_923007.3:n.1696C>T | ||
| XR_923011.3:n.1797C>T | ||
| NM_152783.5:c.1355C>T MANE Select | NP_689996.4:p.Ser452Leu | |
| NM_001287249.2:c.953C>T | NP_001274178.1:p.Ser318Leu | |
| NM_001352824.2:c.794C>T | NP_001339753.1:p.Ser265Leu | |
| NR_109778.2:n.1226C>T |