Linked Data
dbSNP Id:
rs119103224
ExAC:
5:70945016 A / T
gnomAD v2:
5-70945016-A-T
gnomAD v3:
5-71649189-A-T
gnomAD v4:
5-71649189-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71649189A>T , CM000667.2:g.71649189A>T | GRCh38 |
| NC_000005.9:g.70945016A>T , CM000667.1:g.70945016A>T | GRCh37 |
| NC_000005.8:g.70980772A>T | NCBI36 |
| NG_008882.1:g.66902A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000505435.4:n.2917A>T | ||
| ENST00000505787.8:n.3140A>T | ||
| ENST00000509539.3:c.635A>T | ENSP00000425474.3:n.635A>T | |
| ENST00000681968.1:c.802A>T | ENSP00000508143.1:p.Ile268Leu | |
| ENST00000681991.1:n.1393A>T | ||
| ENST00000682045.1:c.1165A>T | ENSP00000507329.1:p.Ile389Leu | |
| ENST00000682214.1:c.916A>T | ENSP00000507336.1:p.Ile306Leu | |
| ENST00000682231.1:n.327A>T | ||
| ENST00000682438.1:n.3308A>T | ||
| ENST00000682499.1:n.2130A>T | ||
| ENST00000682541.1:c.*207A>T | ENSP00000507673.1:n.*207A>T | |
| ENST00000682640.1:n.1013A>T | ||
| ENST00000682667.1:n.1501A>T | ||
| ENST00000682687.1:c.*261A>T | ENSP00000507945.1:n.*261A>T | |
| ENST00000682727.1:c.1300A>T | ENSP00000507393.1:p.Ile434Leu | |
| ENST00000682876.1:c.1438A>T | ENSP00000508389.1:p.Ile480Leu | |
| ENST00000683098.1:c.963A>T | ENSP00000507670.1:p.Arg321Ser | |
| ENST00000683258.1:c.*1030A>T | ENSP00000507448.1:n.*1030A>T | |
| ENST00000683339.1:c.1093A>T | ENSP00000507758.1:p.Ile365Leu | |
| ENST00000683403.1:c.1219A>T | ENSP00000507896.1:p.Ile407Leu | |
| ENST00000683429.1:c.916A>T | ENSP00000507697.1:p.Ile306Leu | |
| ENST00000683789.1:c.1195A>T | ENSP00000507012.1:p.Ile399Leu | |
| ENST00000683847.1:n.1479A>T | ||
| ENST00000683882.1:c.*250A>T | ENSP00000506735.1:n.*250A>T | |
| ENST00000684024.1:c.*980A>T | ENSP00000507175.1:n.*980A>T | |
| ENST00000684132.1:c.237A>T | ||
| ENST00000684254.1:c.*1035A>T | ENSP00000508001.1:n.*1035A>T | |
| ENST00000684310.1:c.475A>T | ENSP00000507550.1:p.Ile159Leu | |
| ENST00000684316.1:n.147A>T | ||
| ENST00000684474.1:n.945A>T | ||
| ENST00000684530.1:c.427A>T | ENSP00000507439.1:p.Ile143Leu | |
| ENST00000684686.1:n.928A>T | ||
| ENST00000340941.11:c.1309A>T MANE Select | ENSP00000343657.6:p.Ile437Leu | |
| ENST00000340941.10:c.1309A>T | ENSP00000343657.6:p.Ile437Leu | |
| ENST00000509539.2:c.625A>T | ENSP00000425474.2:p.Ile209Leu | |
| ENST00000512218.6:c.*261A>T | ENSP00000423202.2:n.*261A>T | |
| NM_022132.4:c.1309A>T | NP_071415.1:p.Ile437Leu | |
| XM_005248567.1:c.1195A>T | XP_005248624.1:p.Ile399Leu | |
| NM_001363147.1:c.1195A>T | NP_001350076.1:p.Ile399Leu | |
| XR_001742172.1:n.1397A>T | ||
| NM_022132.5:c.1309A>T MANE Select | NP_071415.1:p.Ile437Leu |