Linked Data
ClinVar Variation Id:
214451
dbSNP Id:
rs138061928
ExAC:
11:126147035 T / G
gnomAD v2:
11-126147035-T-G
gnomAD v3:
11-126277140-T-G
gnomAD v4:
11-126277140-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126277140T>G , CM000673.2:g.126277140T>G | GRCh38 |
| NC_000011.9:g.126147035T>G , CM000673.1:g.126147035T>G | GRCh37 |
| NC_000011.8:g.125652245T>G | NCBI36 |
| NG_028029.1:g.13101T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.1654T>G | ||
| ENST00000532101.6:n.1300T>G | ||
| ENST00000532125.2:c.1168T>G | ENSP00000434178.2:p.Leu390Val | |
| ENST00000533839.6:c.523T>G | ENSP00000509952.1:p.Leu175Val | |
| ENST00000534011.6:n.1404T>G | ||
| ENST00000685484.1:c.1171T>G | ENSP00000510622.1:p.Leu391Val | |
| ENST00000685601.1:c.*223T>G | ENSP00000510603.1:n.*223T>G | |
| ENST00000685765.1:c.*159T>G | ENSP00000509991.1:n.*159T>G | |
| ENST00000685844.1:c.*781T>G | ENSP00000509820.1:n.*781T>G | |
| ENST00000685857.1:n.2275T>G | ||
| ENST00000686242.1:c.970T>G | ENSP00000508950.1:n.970T>G | |
| ENST00000686888.1:c.*738T>G | ENSP00000509619.1:n.*738T>G | |
| ENST00000687699.1:c.1295T>G | ENSP00000508878.1:n.1295T>G | |
| ENST00000687786.1:n.2607T>G | ||
| ENST00000688100.1:n.2064T>G | ||
| ENST00000688588.1:c.1041T>G | ENSP00000510802.1:p.Ile347Met | |
| ENST00000688927.1:n.3382T>G | ||
| ENST00000689283.1:c.*834T>G | ENSP00000509050.1:n.*834T>G | |
| ENST00000689477.1:c.*1064T>G | ENSP00000508945.1:n.*1064T>G | |
| ENST00000689765.1:c.*664T>G | ENSP00000509625.1:n.*664T>G | |
| ENST00000690512.1:c.*1022T>G | ENSP00000509793.1:n.*1022T>G | |
| ENST00000692039.1:c.*996T>G | ENSP00000508821.1:n.*996T>G | |
| ENST00000692336.1:c.1195T>G | ENSP00000508540.1:p.Leu399Val | |
| ENST00000693133.1:n.2016T>G | ||
| ENST00000263578.10:c.1171T>G MANE Select | ENSP00000263578.5:p.Leu391Val | |
| ENST00000263578.9:c.1171T>G | ENSP00000263578.5:p.Leu391Val | |
| ENST00000525083.5:n.964T>G | ||
| ENST00000525770.5:c.*803T>G | ENSP00000434739.1:n.*803T>G | |
| ENST00000527004.5:c.*515T>G | ENSP00000436374.1:n.*515T>G | |
| ENST00000530642.1:n.2318T>G | ||
| ENST00000532125.1:c.1129T>G | ENSP00000434178.1:p.Leu377Val | |
| ENST00000532590.1:n.229T>G | ||
| ENST00000534011.5:n.1223T>G | ||
| ENST00000534315.5:n.1483T>G | ||
| NM_017547.3:c.1171T>G | NP_060017.1:p.Leu391Val | |
| NR_037647.1:n.1117T>G | ||
| NR_037648.1:n.1357T>G | ||
| XM_006718879.2:c.661T>G | XP_006718942.1:p.Leu221Val | |
| XM_006718880.2:c.538T>G | XP_006718943.1:p.Leu180Val | |
| XM_006718881.2:c.538T>G | XP_006718944.1:p.Leu180Val | |
| XM_011542895.1:c.661T>G | XP_011541197.1:p.Leu221Val | |
| XM_011542896.1:c.661T>G | XP_011541198.1:p.Leu221Val | |
| XM_006718879.3:c.661T>G | XP_006718942.1:p.Leu221Val | |
| XM_006718881.3:c.538T>G | XP_006718944.1:p.Leu180Val | |
| XM_011542895.2:c.661T>G | XP_011541197.1:p.Leu221Val | |
| XM_011542896.2:c.661T>G | XP_011541198.1:p.Leu221Val | |
| XM_017018000.2:c.1168T>G | XP_016873489.1:p.Leu390Val | |
| XM_017018001.1:c.661T>G | XP_016873490.1:p.Leu221Val | |
| XM_017018002.1:c.661T>G | XP_016873491.1:p.Leu221Val | |
| XM_017018003.2:c.538T>G | XP_016873492.1:p.Leu180Val | |
| XM_017018004.1:c.538T>G | XP_016873493.1:p.Leu180Val | |
| XM_017018005.1:c.538T>G | XP_016873494.1:p.Leu180Val | |
| XM_017018006.2:c.535T>G | XP_016873495.1:p.Leu179Val | |
| NM_017547.4:c.1171T>G MANE Select | NP_060017.1:p.Leu391Val | |
| NR_037647.2:n.1003T>G | ||
| NR_037648.2:n.1348T>G |