Linked Data
ClinVar Variation Id:
375395
ClinVar RCV Id:
RCV000416434
dbSNP Id:
rs1057519451
gnomAD v3:
14-78709310-A-G
gnomAD v4:
14-78709310-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.78709310A>G , CM000676.2:g.78709310A>G | GRCh38 |
| NC_000014.8:g.79175653A>G , CM000676.1:g.79175653A>G | GRCh37 |
| NC_000014.7:g.78245406A>G | NCBI36 |
| NG_052991.1:g.543938A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335750.7:c.1315A>G MANE Select | ENSP00000338349.7:p.Lys439Glu | |
| ENST00000634499.2:c.1327A>G | ENSP00000488920.2:p.Lys443Glu | |
| ENST00000635466.2:c.558A>G | ||
| ENST00000335750.6:c.598A>G | ENSP00000338349.6:p.Lys200Glu | |
| ENST00000553631.1:c.28A>G | ENSP00000451947.1:p.Lys10Glu | |
| ENST00000554719.5:c.196A>G | ENSP00000451648.1:p.Lys66Glu | |
| ENST00000554738.5:c.1309A>G | ENSP00000450683.1:p.Lys437Glu | |
| ENST00000556496.2:n.659A>G | ||
| ENST00000557081.1:c.28A>G | ENSP00000450462.1:p.Lys10Glu | |
| ENST00000634266.1:n.558A>G | ||
| ENST00000634499.1:c.1309A>G | ENSP00000488920.1:p.Lys437Glu | |
| ENST00000635466.1:c.1315A>G | ENSP00000489551.1:p.Lys439Glu | |
| NM_004796.5:c.196A>G | NP_004787.2:p.Lys66Glu | |
| NR_073547.1:n.2314A>G | ||
| XM_005268218.2:c.1351A>G | XP_005268275.1:p.Lys451Glu | |
| XM_006720322.2:c.1339A>G | XP_006720385.1:p.Lys447Glu | |
| XM_006720323.2:c.1315A>G | XP_006720386.1:p.Lys439Glu | |
| XM_011537363.1:c.1351A>G | XP_011535665.1:p.Lys451Glu | |
| XM_011537364.1:c.1351A>G | XP_011535666.1:p.Lys451Glu | |
| XM_011537365.1:c.1351A>G | XP_011535667.1:p.Lys451Glu | |
| XM_011537366.1:c.1327A>G | XP_011535668.1:p.Lys443Glu | |
| XM_011537367.1:c.1351A>G | XP_011535669.1:p.Lys451Glu | |
| XM_011537368.1:c.1351A>G | XP_011535670.1:p.Lys451Glu | |
| XM_011537369.1:c.1351A>G | XP_011535671.1:p.Lys451Glu | |
| XM_011537370.1:c.1327A>G | XP_011535672.1:p.Lys443Glu | |
| XM_011537371.1:c.1351A>G | XP_011535673.1:p.Lys451Glu | |
| XM_011537372.1:c.1351A>G | XP_011535674.1:p.Lys451Glu | |
| XM_011537373.1:c.1351A>G | XP_011535675.1:p.Lys451Glu | |
| XM_011537374.1:c.1351A>G | XP_011535676.1:p.Lys451Glu | |
| XM_011537375.1:c.1351A>G | XP_011535677.1:p.Lys451Glu | |
| XM_011537376.1:c.1351A>G | XP_011535678.1:p.Lys451Glu | |
| XM_011537377.1:c.259A>G | XP_011535679.1:p.Lys87Glu | |
| XR_943561.1:n.2356A>G | ||
| XR_943562.1:n.2356A>G | ||
| XR_943563.1:n.2356A>G | ||
| XR_944066.1:n.154+506T>C | ||
| XR_944067.1:n.154+506T>C | ||
| NM_001330195.1:c.1315A>G | NP_001317124.1:p.Lys439Glu | |
| NM_001366425.1:c.1315A>G | NP_001353354.1:p.Lys439Glu | |
| NM_001366426.1:c.1327A>G | NP_001353355.1:p.Lys443Glu | |
| NR_158973.1:n.2332A>G | ||
| NR_158974.1:n.2320A>G | ||
| NR_158975.1:n.2332A>G | ||
| XM_005268218.3:c.1351A>G | XP_005268275.1:p.Lys451Glu | |
| XM_011537364.2:c.1351A>G | XP_011535666.1:p.Lys451Glu | |
| XM_011537365.2:c.1351A>G | XP_011535667.1:p.Lys451Glu | |
| XM_017021790.1:c.1351A>G | XP_016877279.1:p.Lys451Glu | |
| XM_017021791.1:c.1351A>G | XP_016877280.1:p.Lys451Glu | |
| XM_017021792.1:c.1339A>G | XP_016877281.1:p.Lys447Glu | |
| XM_017021793.1:c.1351A>G | XP_016877282.1:p.Lys451Glu | |
| XM_017021794.1:c.1315A>G | XP_016877283.1:p.Lys439Glu | |
| XM_017021796.2:c.1327A>G | XP_016877285.1:p.Lys443Glu | |
| XM_017021797.1:c.1291A>G | XP_016877286.1:p.Lys431Glu | |
| XM_017021798.1:c.1315A>G | XP_016877287.1:p.Lys439Glu | |
| XM_017021799.2:c.1351A>G | XP_016877288.1:p.Lys451Glu | |
| XM_017021800.1:c.1351A>G | XP_016877289.1:p.Lys451Glu | |
| XM_017021801.1:c.1351A>G | XP_016877290.1:p.Lys451Glu | |
| XM_017021804.1:c.1351A>G | XP_016877293.1:p.Lys451Glu | |
| XM_017021805.1:c.1315A>G | XP_016877294.1:p.Lys439Glu | |
| XM_017021807.1:c.1351A>G | XP_016877296.1:p.Lys451Glu | |
| XM_024449750.1:c.1351A>G | XP_024305518.1:p.Lys451Glu | |
| XM_024449751.1:c.1315A>G | XP_024305519.1:p.Lys439Glu | |
| XM_024449752.1:c.1339A>G | XP_024305520.1:p.Lys447Glu | |
| XM_024449753.1:c.1315A>G | XP_024305521.1:p.Lys439Glu | |
| XR_001750599.1:n.2356A>G | ||
| XR_001750600.1:n.2356A>G | ||
| XR_001750602.1:n.2356A>G | ||
| XR_001750604.1:n.2332A>G | ||
| XR_001750605.1:n.2332A>G | ||
| XR_001750606.1:n.2356A>G | ||
| XR_001750607.1:n.2356A>G | ||
| XR_001750609.1:n.2356A>G | ||
| XR_001750610.1:n.2356A>G | ||
| XR_002957572.1:n.2356A>G | ||
| XR_943563.2:n.2356A>G | ||
| XR_944068.3:n.684T>C | ||
| NM_001330195.2:c.1315A>G MANE Select | NP_001317124.1:p.Lys439Glu | |
| NM_004796.6:c.196A>G | NP_004787.2:p.Lys66Glu | |
| NR_073547.2:n.2314A>G |