Linked Data
dbSNP Id:
rs139767143
ExAC:
1:19404514 G / A
gnomAD v2:
1-19404514-G-A
gnomAD v3:
1-19078020-G-A
gnomAD v4:
1-19078020-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19078020G>A , CM000663.2:g.19078020G>A | GRCh38 |
| NC_000001.10:g.19404514G>A , CM000663.1:g.19404514G>A | GRCh37 |
| NC_000001.9:g.19277101G>A | NCBI36 |
| NG_027669.1:g.137233C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375254.8:c.15280C>T MANE Select | ENSP00000364403.3:p.Leu5094Phe | |
| ENST00000375224.1:c.2401C>T | ENSP00000364372.1:p.Leu801Phe | |
| ENST00000375225.7:c.505C>T | ENSP00000364373.3:p.Leu169Phe | |
| ENST00000375254.7:c.15280C>T | ENSP00000364403.3:p.Leu5094Phe | |
| ENST00000459947.5:n.3287C>T | ||
| NM_020765.2:c.15280C>T | NP_065816.2:p.Leu5094Phe | |
| XM_011541108.1:c.15433C>T | XP_011539410.1:p.Leu5145Phe | |
| XM_011541109.1:c.15430C>T | XP_011539411.1:p.Leu5144Phe | |
| XM_011541110.1:c.15430C>T | XP_011539412.1:p.Leu5144Phe | |
| XM_011541111.1:c.15430C>T | XP_011539413.1:p.Leu5144Phe | |
| XM_011541112.1:c.15418C>T | XP_011539414.1:p.Leu5140Phe | |
| XM_011541113.1:c.15415C>T | XP_011539415.1:p.Leu5139Phe | |
| XM_011541114.1:c.15415C>T | XP_011539416.1:p.Leu5139Phe | |
| XM_011541115.1:c.15409C>T | XP_011539417.1:p.Leu5137Phe | |
| XM_011541116.1:c.15400C>T | XP_011539418.1:p.Leu5134Phe | |
| XM_011541117.1:c.15349C>T | XP_011539419.1:p.Leu5117Phe | |
| XM_011541118.1:c.15346C>T | XP_011539420.1:p.Leu5116Phe | |
| XM_011541119.1:c.15313C>T | XP_011539421.1:p.Leu5105Phe | |
| XM_011541120.1:c.15310C>T | XP_011539422.1:p.Leu5104Phe | |
| XM_011541121.1:c.15277C>T | XP_011539423.1:p.Leu5093Phe | |
| XM_011541108.3:c.15547C>T | XP_011539410.2:p.Leu5183Phe | |
| XM_011541109.3:c.15544C>T | XP_011539411.2:p.Leu5182Phe | |
| XM_011541110.3:c.15544C>T | XP_011539412.2:p.Leu5182Phe | |
| XM_011541111.3:c.15544C>T | XP_011539413.2:p.Leu5182Phe | |
| XM_011541112.3:c.15532C>T | XP_011539414.2:p.Leu5178Phe | |
| XM_011541113.3:c.15529C>T | XP_011539415.2:p.Leu5177Phe | |
| XM_011541114.3:c.15529C>T | XP_011539416.2:p.Leu5177Phe | |
| XM_011541115.3:c.15523C>T | XP_011539417.2:p.Leu5175Phe | |
| XM_011541116.3:c.15514C>T | XP_011539418.2:p.Leu5172Phe | |
| XM_011541117.3:c.15463C>T | XP_011539419.2:p.Leu5155Phe | |
| XM_011541118.3:c.15460C>T | XP_011539420.2:p.Leu5154Phe | |
| XM_011541119.3:c.15427C>T | XP_011539421.2:p.Leu5143Phe | |
| XM_011541120.3:c.15424C>T | XP_011539422.2:p.Leu5142Phe | |
| XM_011541121.3:c.15391C>T | XP_011539423.2:p.Leu5131Phe | |
| XM_017000822.2:c.15526C>T | XP_016856311.2:p.Leu5176Phe | |
| XM_017000823.2:c.15499C>T | XP_016856312.2:p.Leu5167Phe | |
| XM_017000824.2:c.15445C>T | XP_016856313.2:p.Leu5149Phe | |
| XM_017000825.2:c.15430C>T | XP_016856314.2:p.Leu5144Phe | |
| XM_017000826.2:c.15427C>T | XP_016856315.2:p.Leu5143Phe | |
| XM_017000827.2:c.15412C>T | XP_016856316.2:p.Leu5138Phe | |
| XM_017000828.2:c.15388C>T | XP_016856317.2:p.Leu5130Phe | |
| XM_017000829.2:c.15340C>T | XP_016856318.2:p.Leu5114Phe | |
| XM_017000830.2:c.15289C>T | XP_016856319.2:p.Leu5097Phe | |
| NM_020765.3:c.15280C>T MANE Select | NP_065816.2:p.Leu5094Phe |