Linked Data
dbSNP Id:
rs773648163
ExAC:
2:242707178 C / T
gnomAD v2:
2-242707178-C-T
gnomAD v4:
2-241767763-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767763C>T , CM000664.2:g.241767763C>T | GRCh38 |
| NC_000002.11:g.242707178C>T , CM000664.1:g.242707178C>T | GRCh37 |
| NC_000002.10:g.242355851C>T | NCBI36 |
| NG_012012.1:g.38149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1360C>T MANE Select | ENSP00000315351.4:p.Leu454= | |
| ENST00000321264.8:c.1360C>T | ENSP00000315351.4:p.Leu454= | |
| ENST00000400769.6:c.*110C>T | ENSP00000383580.2:n.*110C>T | |
| ENST00000403782.5:c.958C>T | ENSP00000384723.1:p.Leu320= | |
| ENST00000436747.5:c.*2596C>T | ENSP00000400212.1:n.*2596C>T | |
| ENST00000445308.1:c.756C>T | ||
| ENST00000468064.5:n.1250C>T | ||
| ENST00000470343.5:n.841C>T | ||
| ENST00000473126.1:n.559C>T | ||
| ENST00000486953.5:n.1184C>T | ||
| ENST00000610344.1:c.*204C>T | ENSP00000481906.1:n.*204C>T | |
| NM_001287249.1:c.958C>T | NP_001274178.1:p.Leu320= | |
| NM_152783.4:c.1360C>T | NP_689996.4:p.Leu454= | |
| NR_109778.1:n.1282C>T | ||
| XM_011511734.1:c.1480C>T | XP_011510036.1:p.Leu494= | |
| XM_011511735.1:c.1438C>T | XP_011510037.1:p.Leu480= | |
| XM_011511736.1:c.1402C>T | XP_011510038.1:p.Leu468= | |
| XM_011511744.1:c.*92C>T | XP_011510046.1:n.*92C>T | |
| XM_011511750.1:c.*27C>T | XP_011510052.1:n.*27C>T | |
| XM_011511754.1:c.919C>T | XP_011510056.1:p.Leu307= | |
| XM_011511755.1:c.910C>T | XP_011510057.1:p.Leu304= | |
| XM_011511756.1:c.907C>T | XP_011510058.1:p.Leu303= | |
| XR_923004.1:n.1992C>T | ||
| XR_923007.1:n.1702C>T | ||
| XR_923011.1:n.1803C>T | ||
| NM_001352824.1:c.799C>T | NP_001339753.1:p.Leu267= | |
| XM_011511734.2:c.1480C>T | XP_011510036.1:p.Leu494= | |
| XM_011511735.2:c.1438C>T | XP_011510037.1:p.Leu480= | |
| XM_011511736.2:c.1402C>T | XP_011510038.1:p.Leu468= | |
| XM_011511744.2:c.*92C>T | XP_011510046.1:n.*92C>T | |
| XM_011511750.3:c.*27C>T | XP_011510052.1:n.*27C>T | |
| XM_011511756.2:c.907C>T | XP_011510058.1:p.Leu303= | |
| XM_024453102.1:c.1252C>T | XP_024308870.1:p.Leu418= | |
| XR_001738918.2:n.1734C>T | ||
| XR_001738919.2:n.1668C>T | ||
| XR_923004.3:n.1991C>T | ||
| XR_923007.3:n.1701C>T | ||
| XR_923011.3:n.1802C>T | ||
| NM_152783.5:c.1360C>T MANE Select | NP_689996.4:p.Leu454= | |
| NM_001287249.2:c.958C>T | NP_001274178.1:p.Leu320= | |
| NM_001352824.2:c.799C>T | NP_001339753.1:p.Leu267= | |
| NR_109778.2:n.1231C>T |