Linked Data
ClinVar Variation Id:
224897
ClinVar RCV Id:
RCV000210479
RCV000420790
RCV000420160
RCV000430840
RCV000438709
RCV000441552
RCV000428027
RCV001849345
dbSNP Id:
rs869320694
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38414790T>C , CM000670.2:g.38414790T>C | GRCh38 |
| NC_000008.10:g.38272308T>C , CM000670.1:g.38272308T>C | GRCh37 |
| NC_000008.9:g.38391465T>C | NCBI36 |
| NG_007729.1:g.59045A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703405.1:c.1966A>G | ENSP00000515291.1:p.Lys656Glu | |
| ENST00000341462.9:c.1954A>G | ENSP00000340636.7:p.Lys652Glu | |
| ENST00000425967.8:c.1954A>G | ENSP00000393312.4:p.Lys652Glu | |
| ENST00000524528.2:n.2859A>G | ||
| ENST00000682398.1:n.788A>G | ||
| ENST00000683132.1:n.656A>G | ||
| ENST00000683765.1:c.2146A>G | ENSP00000507039.1:p.Lys716Glu | |
| ENST00000683815.1:c.1954A>G | ENSP00000507997.1:p.Lys652Glu | |
| ENST00000683948.1:n.2654A>G | ||
| ENST00000684654.1:c.1687A>G | ENSP00000507205.1:p.Lys563Glu | |
| ENST00000447712.7:c.1966A>G MANE Select | ENSP00000400162.2:p.Lys656Glu | |
| ENST00000649678.1:c.1954A>G | ENSP00000497266.1:p.Lys652Glu | |
| ENST00000674189.1:c.*1612A>G | ENSP00000501345.1:n.*1612A>G | |
| ENST00000674380.1:c.*1933A>G | ENSP00000501514.1:n.*1933A>G | |
| ENST00000674474.1:n.3460A>G | ||
| ENST00000326324.10:c.1693A>G | ENSP00000327229.6:p.Lys565Glu | |
| ENST00000335922.9:c.1936A>G | ENSP00000337247.5:p.Lys646Glu | |
| ENST00000341462.8:c.*1016A>G | ENSP00000340636.6:n.*1016A>G | |
| ENST00000356207.9:c.1699A>G | ENSP00000348537.5:p.Lys567Glu | |
| ENST00000397091.9:c.1960A>G | ENSP00000380280.5:p.Lys654Glu | |
| ENST00000397103.5:c.1699A>G | ENSP00000380292.1:p.Lys567Glu | |
| ENST00000397108.8:c.1960A>G | ENSP00000380297.4:p.Lys654Glu | |
| ENST00000397113.6:c.1960A>G | ENSP00000380302.2:p.Lys654Glu | |
| ENST00000425967.7:c.2059A>G | ENSP00000393312.3:p.Lys687Glu | |
| ENST00000447712.6:c.1966A>G | ENSP00000400162.2:p.Lys656Glu | |
| ENST00000526570.5:n.4245A>G | ||
| ENST00000527114.5:n.1488A>G | ||
| ENST00000531196.5:c.166A>G | ENSP00000434800.1:p.Lys56Glu | |
| ENST00000532791.5:c.1960A>G | ENSP00000432972.1:p.Lys654Glu | |
| ENST00000533619.5:n.512A>G | ||
| ENST00000619564.3:c.*861A>G | ENSP00000484553.1:n.*861A>G | |
| NM_001174063.1:c.1960A>G | NP_001167534.1:p.Lys654Glu | |
| NM_001174064.1:c.1936A>G | NP_001167535.1:p.Lys646Glu | |
| NM_001174065.1:c.1960A>G | NP_001167536.1:p.Lys654Glu | |
| NM_001174066.1:c.1699A>G | NP_001167537.1:p.Lys567Glu | |
| NM_001174067.1:c.2059A>G | NP_001167538.1:p.Lys687Glu | |
| NM_015850.3:c.1960A>G | NP_056934.2:p.Lys654Glu | |
| NM_023105.2:c.1699A>G | NP_075593.1:p.Lys567Glu | |
| NM_023106.2:c.1693A>G | NP_075594.1:p.Lys565Glu | |
| NM_023110.2:c.1966A>G | NP_075598.2:p.Lys656Glu | |
| XM_006716303.2:c.1966A>G | XP_006716366.1:p.Lys656Glu | |
| XM_006716304.1:c.1966A>G | XP_006716367.1:p.Lys656Glu | |
| XM_006716305.2:c.1966A>G | XP_006716368.1:p.Lys656Glu | |
| XM_006716306.2:c.1960A>G | XP_006716369.1:p.Lys654Glu | |
| XM_006716307.1:c.1960A>G | XP_006716370.1:p.Lys654Glu | |
| XM_006716309.2:c.1942A>G | XP_006716372.1:p.Lys648Glu | |
| XM_006716310.2:c.1699A>G | XP_006716373.1:p.Lys567Glu | |
| XM_006716311.1:c.1699A>G | XP_006716374.1:p.Lys567Glu | |
| XM_006716312.1:c.1699A>G | XP_006716375.1:p.Lys567Glu | |
| XM_006716313.2:c.1693A>G | XP_006716376.1:p.Lys565Glu | |
| XM_006716314.1:c.1693A>G | XP_006716377.1:p.Lys565Glu | |
| XM_011544443.1:c.2065A>G | XP_011542745.1:p.Lys689Glu | |
| XM_011544444.1:c.2059A>G | XP_011542746.1:p.Lys687Glu | |
| XM_011544445.1:c.2059A>G | XP_011542747.1:p.Lys687Glu | |
| XM_011544446.1:c.2065A>G | XP_011542748.1:p.Lys689Glu | |
| XM_011544447.1:c.2059A>G | XP_011542749.1:p.Lys687Glu | |
| XM_011544448.1:c.1798A>G | XP_011542750.1:p.Lys600Glu | |
| XM_011544449.1:c.1792A>G | XP_011542751.1:p.Lys598Glu | |
| XM_011544450.1:c.1792A>G | XP_011542752.1:p.Lys598Glu | |
| XM_011544451.1:c.1675A>G | XP_011542753.1:p.Lys559Glu | |
| NM_001354367.1:c.1960A>G | NP_001341296.1:p.Lys654Glu | |
| NM_001354368.1:c.1687A>G | NP_001341297.1:p.Lys563Glu | |
| NM_001354369.1:c.1954A>G | NP_001341298.1:p.Lys652Glu | |
| NM_001354370.1:c.1693A>G | NP_001341299.1:p.Lys565Glu | |
| XM_006716303.3:c.1966A>G | XP_006716366.1:p.Lys656Glu | |
| XM_006716310.3:c.1699A>G | XP_006716373.1:p.Lys567Glu | |
| XM_006716312.2:c.1699A>G | XP_006716375.1:p.Lys567Glu | |
| XM_006716314.2:c.1693A>G | XP_006716377.1:p.Lys565Glu | |
| XM_011544443.2:c.2065A>G | XP_011542745.1:p.Lys689Glu | |
| XM_011544445.2:c.2059A>G | XP_011542747.1:p.Lys687Glu | |
| XM_011544446.2:c.2065A>G | XP_011542748.1:p.Lys689Glu | |
| XM_011544447.2:c.2059A>G | XP_011542749.1:p.Lys687Glu | |
| XM_011544450.2:c.1792A>G | XP_011542752.1:p.Lys598Glu | |
| XM_017013219.1:c.2053A>G | XP_016868708.1:p.Lys685Glu | |
| XM_017013220.1:c.2053A>G | XP_016868709.1:p.Lys685Glu | |
| XM_017013221.1:c.1966A>G | XP_016868710.1:p.Lys656Glu | |
| XM_017013222.2:c.1960A>G | XP_016868711.1:p.Lys654Glu | |
| XM_017013224.2:c.1954A>G | XP_016868713.1:p.Lys652Glu | |
| XM_017013225.2:c.1954A>G | XP_016868714.1:p.Lys652Glu | |
| XM_017013226.1:c.1792A>G | XP_016868715.1:p.Lys598Glu | |
| XM_017013227.1:c.1786A>G | XP_016868716.1:p.Lys596Glu | |
| XM_017013229.2:c.994A>G | XP_016868718.1:p.Lys332Glu | |
| XM_017013230.1:c.994A>G | XP_016868719.1:p.Lys332Glu | |
| XM_024447097.1:c.1942A>G | XP_024302865.1:p.Lys648Glu | |
| XR_001745495.1:n.2239A>G | ||
| XR_001745496.1:n.2239A>G | ||
| NM_001174063.2:c.1960A>G | NP_001167534.1:p.Lys654Glu | |
| NM_001174064.2:c.1936A>G | NP_001167535.1:p.Lys646Glu | |
| NM_001174065.2:c.1960A>G | NP_001167536.1:p.Lys654Glu | |
| NM_001174066.2:c.1699A>G | NP_001167537.1:p.Lys567Glu | |
| NM_001354368.2:c.1687A>G | NP_001341297.1:p.Lys563Glu | |
| NM_015850.4:c.1960A>G | NP_056934.2:p.Lys654Glu | |
| NM_023105.3:c.1699A>G | NP_075593.1:p.Lys567Glu | |
| NM_023106.3:c.1693A>G | NP_075594.1:p.Lys565Glu | |
| NM_023110.3:c.1966A>G MANE Select | NP_075598.2:p.Lys656Glu | |
| NM_001174067.2:c.2059A>G | NP_001167538.1:p.Lys687Glu | |
| NM_001354367.2:c.1960A>G | NP_001341296.1:p.Lys654Glu | |
| NM_001354369.2:c.1954A>G | NP_001341298.1:p.Lys652Glu | |
| NM_001354370.2:c.1693A>G | NP_001341299.1:p.Lys565Glu |