Linked Data
dbSNP Id:
rs33949390
ExAC:
12:40713845 G / T
gnomAD v2:
12-40713845-G-T
gnomAD v4:
12-40320043-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40320043G>T , CM000674.2:g.40320043G>T | GRCh38 |
| NC_000012.11:g.40713845G>T , CM000674.1:g.40713845G>T | GRCh37 |
| NC_000012.10:g.39000112G>T | NCBI36 |
| NG_011709.1:g.100033G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.4883G>T MANE Select | ENSP00000298910.7:p.Arg1628Leu | |
| ENST00000679360.1:c.*3792G>T | ENSP00000505368.1:n.*3792G>T | |
| ENST00000679532.1:c.657G>T | ||
| ENST00000680018.1:c.328G>T | ENSP00000505347.1:n.328G>T | |
| ENST00000680422.1:c.528G>T | ||
| ENST00000680425.1:c.183-991G>T | ENSP00000506459.1:n.183-991G>T | |
| ENST00000680453.1:c.473-991G>T | ||
| ENST00000680790.1:c.4628G>T | ENSP00000505335.1:p.Arg1543Leu | |
| ENST00000681136.1:n.867G>T | ||
| ENST00000681696.1:c.566G>T | ENSP00000505871.1:p.Arg189Leu | |
| ENST00000298910.11:c.4883G>T | ENSP00000298910.7:p.Arg1628Leu | |
| ENST00000430804.5:c.2179G>T | ||
| ENST00000479187.5:n.1564G>T | ||
| ENST00000481256.1:n.542G>T | ||
| NM_198578.3:c.4883G>T | NP_940980.3:p.Arg1628Leu | |
| XM_005268629.2:c.4883G>T | XP_005268686.1:p.Arg1628Leu | |
| XM_011537877.1:c.4883G>T | XP_011536179.1:p.Arg1628Leu | |
| XM_011537878.1:c.4883G>T | XP_011536180.1:p.Arg1628Leu | |
| XM_011537879.1:c.3680G>T | XP_011536181.1:p.Arg1227Leu | |
| XM_011537881.1:c.4828-991G>T | XP_011536183.1:n.4828-991G>T | |
| XM_005268629.4:c.4883G>T | XP_005268686.1:p.Arg1628Leu | |
| XM_011537877.3:c.4883G>T | XP_011536179.1:p.Arg1628Leu | |
| XM_011537881.3:c.4828-991G>T | XP_011536183.1:n.4828-991G>T | |
| XM_017018787.1:c.1799G>T | XP_016874276.1:p.Arg600Leu | |
| XM_017018788.2:c.1145G>T | XP_016874277.1:p.Arg382Leu | |
| XM_024448833.1:c.3680G>T | XP_024304601.1:p.Arg1227Leu | |
| XR_001748574.2:n.5251G>T | ||
| NM_198578.4:c.4883G>T MANE Select | NP_940980.4:p.Arg1628Leu |