ClinVar Variation:
dbSNP:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162153274G>T , CM000667.2:g.162153274G>T | GRCh38 |
| NC_000005.9:g.161580280G>T , CM000667.1:g.161580280G>T | GRCh37 |
| NC_000005.8:g.161512858G>T | NCBI36 |
| NG_009290.1:g.90633G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.1335G>T | ||
| ENST00000361925.9:c.1430G>T | ENSP00000354651.5:p.Arg477Leu | |
| ENST00000523372.2:c.1393G>T | ||
| ENST00000638253.1:n.588G>T | ||
| ENST00000638552.1:c.1025G>T | ENSP00000491763.1:p.Arg342Leu | |
| ENST00000638660.1:c.1049G>T | ENSP00000492869.1:p.Arg350Leu | |
| ENST00000638772.1:c.*3931G>T | ENSP00000491557.1:n.*3931G>T | |
| ENST00000638877.1:c.1211G>T | ||
| ENST00000639046.1:c.701G>T | ENSP00000492659.1:p.Arg234Leu | |
| ENST00000639111.2:c.1310G>T | ENSP00000492125.2:p.Arg437Leu | |
| ENST00000639213.2:c.1334G>T MANE Select | ENSP00000491909.2:p.Arg445Leu | |
| ENST00000639278.1:c.1997G>T | ENSP00000491958.1:n.1997G>T | |
| ENST00000639384.1:c.*1515G>T | ENSP00000491240.1:n.*1515G>T | |
| ENST00000639424.1:c.*534G>T | ENSP00000491245.1:n.*534G>T | |
| ENST00000639683.1:c.1268G>T | ENSP00000492581.1:p.Arg423Leu | |
| ENST00000639975.1:c.1244G>T | ENSP00000492096.1:p.Arg415Leu | |
| ENST00000640500.1:n.608G>T | ||
| ENST00000640739.1:n.6281G>T | ||
| ENST00000640910.1:c.772G>T | ||
| ENST00000640985.1:c.1247G>T | ENSP00000492293.1:p.Arg416Leu | |
| ENST00000641017.1:c.1403G>T | ENSP00000493461.1:p.Arg468Leu | |
| ENST00000356592.7:c.1334G>T | ENSP00000349000.3:p.Arg445Leu | |
| ENST00000361925.8:c.1310G>T | ENSP00000354651.4:p.Arg437Leu | |
| ENST00000414552.6:c.1454G>T | ENSP00000410732.2:p.Arg485Leu | |
| ENST00000522990.5:c.*912G>T | ENSP00000430732.1:n.*912G>T | |
| ENST00000523372.1:c.1431G>T | ENSP00000430124.1:n.1431G>T | |
| NM_000816.3:c.1310G>T | NP_000807.2:p.Arg437Leu | |
| NM_198903.2:c.1454G>T | NP_944493.2:p.Arg485Leu | |
| NM_198904.2:c.1334G>T | NP_944494.1:p.Arg445Leu | |
| NM_001375339.1:c.1325G>T | NP_001362268.1:p.Arg442Leu | |
| NM_001375340.1:c.*168G>T | NP_001362269.1:n.*168G>T | |
| NM_001375341.1:c.1331G>T | NP_001362270.1:p.Arg444Leu | |
| NM_001375342.1:c.1307G>T | NP_001362271.1:p.Arg436Leu | |
| NM_001375343.1:c.1430G>T | NP_001362272.1:p.Arg477Leu | |
| NM_001375344.1:c.1373G>T | NP_001362273.1:p.Arg458Leu | |
| NM_001375345.1:c.1244G>T | NP_001362274.1:p.Arg415Leu | |
| NM_001375346.1:c.1268G>T | NP_001362275.1:p.Arg423Leu | |
| NM_001375347.1:c.1247G>T | NP_001362276.1:p.Arg416Leu | |
| NM_001375348.1:c.890G>T | NP_001362277.1:p.Arg297Leu | |
| NM_001375349.1:c.1025G>T | NP_001362278.1:p.Arg342Leu | |
| NM_001375350.1:c.914G>T | NP_001362279.1:p.Arg305Leu | |
| NM_198904.3:c.1334G>T | NP_944494.1:p.Arg445Leu | |
| NM_198904.4:c.1334G>T MANE Select | NP_944494.1:p.Arg445Leu |