Linked Data
ClinVar Variation Id:
134086
dbSNP Id:
rs372043866
gnomAD v2:
17-37884218-G-T
gnomAD v3:
17-39727965-G-T
gnomAD v4:
17-39727965-G-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727965G>T , CM000679.2:g.39727965G>T | GRCh38 |
| NC_000017.10:g.37884218G>T , CM000679.1:g.37884218G>T | GRCh37 |
| NC_000017.9:g.35137744G>T | NCBI36 |
| NG_007503.1:g.44826G>T , LRG_724:g.44826G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3689G>T MANE Select | ENSP00000269571.4:p.Arg1230Leu | |
| ENST00000269571.9:c.3689G>T | ENSP00000269571.4:p.Arg1230Leu | |
| ENST00000406381.6:c.3599G>T | ENSP00000385185.2:p.Arg1200Leu | |
| ENST00000445658.6:c.2861G>T | ENSP00000404047.2:p.Arg954Leu | |
| ENST00000541774.5:c.3644G>T | ENSP00000446466.1:p.Arg1215Leu | |
| ENST00000578373.5:c.*3479G>T | ENSP00000463427.1:n.*3479G>T | |
| ENST00000584450.5:c.*268G>T | ENSP00000463714.1:n.*268G>T | |
| ENST00000584601.5:c.3599G>T | ENSP00000462438.1:p.Arg1200Leu | |
| NM_001005862.2:c.3599G>T , LRG_724t1:c.3599G>T | NP_001005862.1:p.Arg1200Leu | |
| NM_001289936.1:c.3644G>T , LRG_724t4:c.3644G>T | NP_001276865.1:p.Arg1215Leu | |
| NM_001289937.1:c.*268G>T | NP_001276866.1:n.*268G>T | |
| NM_004448.3:c.3689G>T , LRG_724t2:c.3689G>T | NP_004439.2:p.Arg1230Leu | |
| NR_110535.1:n.4013G>T | ||
| XM_024450641.1:c.3827G>T | XP_024306409.1:p.Arg1276Leu | |
| XM_024450642.1:c.3782G>T | XP_024306410.1:p.Arg1261Leu | |
| XM_024450643.1:c.3737G>T | XP_024306411.1:p.Arg1246Leu | |
| NM_001005862.3:c.3599G>T | NP_001005862.1:p.Arg1200Leu | |
| NM_001289936.2:c.3644G>T | NP_001276865.1:p.Arg1215Leu | |
| NM_001289937.2:c.*268G>T | NP_001276866.1:n.*268G>T | |
| NM_001382782.1:c.3599G>T | NP_001369711.1:p.Arg1200Leu | |
| NM_001382783.1:c.3599G>T | NP_001369712.1:p.Arg1200Leu | |
| NM_001382784.1:c.3806G>T | NP_001369713.1:p.Arg1269Leu | |
| NM_001382785.1:c.3791G>T | NP_001369714.1:p.Arg1264Leu | |
| NM_001382786.1:c.3770G>T | NP_001369715.1:p.Arg1257Leu | |
| NM_001382787.1:c.3764G>T | NP_001369716.1:p.Arg1255Leu | |
| NM_001382788.1:c.3719G>T | NP_001369717.1:p.Arg1240Leu | |
| NM_001382789.1:c.3710G>T | NP_001369718.1:p.Arg1237Leu | |
| NM_001382790.1:c.3686G>T | NP_001369719.1:p.Arg1229Leu | |
| NM_001382791.1:c.3680G>T | NP_001369720.1:p.Arg1227Leu | |
| NM_001382792.1:c.3653G>T | NP_001369721.1:p.Arg1218Leu | |
| NM_001382793.1:c.3647G>T | NP_001369722.1:p.Arg1216Leu | |
| NM_001382794.1:c.3647G>T | NP_001369723.1:p.Arg1216Leu | |
| NM_001382795.1:c.3641G>T | NP_001369724.1:p.Arg1214Leu | |
| NM_001382796.1:c.3602G>T | NP_001369725.1:p.Arg1201Leu | |
| NM_001382797.1:c.3590G>T | NP_001369726.1:p.Arg1197Leu | |
| NM_001382798.1:c.3533G>T | NP_001369727.1:p.Arg1178Leu | |
| NM_001382799.1:c.3509G>T | NP_001369728.1:p.Arg1170Leu | |
| NM_001382800.1:c.3503G>T | NP_001369729.1:p.Arg1168Leu | |
| NM_001382801.1:c.3485G>T | NP_001369730.1:p.Arg1162Leu | |
| NM_001382802.1:c.3431G>T | NP_001369731.1:p.Arg1144Leu | |
| NM_001382803.1:c.*268G>T | NP_001369732.1:n.*268G>T | |
| NM_001382804.1:c.2861G>T | NP_001369733.1:p.Arg954Leu | |
| NM_001382805.1:c.2738G>T | NP_001369734.1:p.Arg913Leu | |
| NM_001382806.1:c.2651G>T | NP_001369735.1:p.Arg884Leu | |
| NM_004448.4:c.3689G>T MANE Select | NP_004439.2:p.Arg1230Leu | |
| NR_110535.2:n.3927G>T |