Linked Data
ClinVar Variation Id:
2169163
ClinVar RCV Id:
RCV003082937
dbSNP Id:
rs757037466
ExAC:
17:37883999 T / G
gnomAD v2:
17-37883999-T-G
gnomAD v3:
17-39727746-T-G
gnomAD v4:
17-39727746-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727746T>G , CM000679.2:g.39727746T>G | GRCh38 |
| NC_000017.10:g.37883999T>G , CM000679.1:g.37883999T>G | GRCh37 |
| NC_000017.9:g.35137525T>G | NCBI36 |
| NG_007503.1:g.44607T>G , LRG_724:g.44607T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3470T>G MANE Select | ENSP00000269571.4:p.Leu1157Arg | |
| ENST00000269571.9:c.3470T>G | ENSP00000269571.4:p.Leu1157Arg | |
| ENST00000406381.6:c.3380T>G | ENSP00000385185.2:p.Leu1127Arg | |
| ENST00000445658.6:c.2642T>G | ENSP00000404047.2:p.Leu881Arg | |
| ENST00000541774.5:c.3425T>G | ENSP00000446466.1:p.Leu1142Arg | |
| ENST00000578373.5:c.*3260T>G | ENSP00000463427.1:n.*3260T>G | |
| ENST00000584450.5:c.*49T>G | ENSP00000463714.1:n.*49T>G | |
| ENST00000584601.5:c.3380T>G | ENSP00000462438.1:p.Leu1127Arg | |
| NM_001005862.2:c.3380T>G , LRG_724t1:c.3380T>G | NP_001005862.1:p.Leu1127Arg | |
| NM_001289936.1:c.3425T>G , LRG_724t4:c.3425T>G | NP_001276865.1:p.Leu1142Arg | |
| NM_001289937.1:c.*49T>G | NP_001276866.1:n.*49T>G | |
| NM_004448.3:c.3470T>G , LRG_724t2:c.3470T>G | NP_004439.2:p.Leu1157Arg | |
| NR_110535.1:n.3794T>G | ||
| XM_024450641.1:c.3608T>G | XP_024306409.1:p.Leu1203Arg | |
| XM_024450642.1:c.3563T>G | XP_024306410.1:p.Leu1188Arg | |
| XM_024450643.1:c.3518T>G | XP_024306411.1:p.Leu1173Arg | |
| NM_001005862.3:c.3380T>G | NP_001005862.1:p.Leu1127Arg | |
| NM_001289936.2:c.3425T>G | NP_001276865.1:p.Leu1142Arg | |
| NM_001289937.2:c.*49T>G | NP_001276866.1:n.*49T>G | |
| NM_001382782.1:c.3380T>G | NP_001369711.1:p.Leu1127Arg | |
| NM_001382783.1:c.3380T>G | NP_001369712.1:p.Leu1127Arg | |
| NM_001382784.1:c.3587T>G | NP_001369713.1:p.Leu1196Arg | |
| NM_001382785.1:c.3572T>G | NP_001369714.1:p.Leu1191Arg | |
| NM_001382786.1:c.3551T>G | NP_001369715.1:p.Leu1184Arg | |
| NM_001382787.1:c.3545T>G | NP_001369716.1:p.Leu1182Arg | |
| NM_001382788.1:c.3500T>G | NP_001369717.1:p.Leu1167Arg | |
| NM_001382789.1:c.3491T>G | NP_001369718.1:p.Leu1164Arg | |
| NM_001382790.1:c.3467T>G | NP_001369719.1:p.Leu1156Arg | |
| NM_001382791.1:c.3461T>G | NP_001369720.1:p.Leu1154Arg | |
| NM_001382792.1:c.3434T>G | NP_001369721.1:p.Leu1145Arg | |
| NM_001382793.1:c.3428T>G | NP_001369722.1:p.Leu1143Arg | |
| NM_001382794.1:c.3428T>G | NP_001369723.1:p.Leu1143Arg | |
| NM_001382795.1:c.3422T>G | NP_001369724.1:p.Leu1141Arg | |
| NM_001382796.1:c.3383T>G | NP_001369725.1:p.Leu1128Arg | |
| NM_001382797.1:c.3371T>G | NP_001369726.1:p.Leu1124Arg | |
| NM_001382798.1:c.3314T>G | NP_001369727.1:p.Leu1105Arg | |
| NM_001382799.1:c.3290T>G | NP_001369728.1:p.Leu1097Arg | |
| NM_001382800.1:c.3284T>G | NP_001369729.1:p.Leu1095Arg | |
| NM_001382801.1:c.3266T>G | NP_001369730.1:p.Leu1089Arg | |
| NM_001382802.1:c.3212T>G | NP_001369731.1:p.Leu1071Arg | |
| NM_001382803.1:c.*49T>G | NP_001369732.1:n.*49T>G | |
| NM_001382804.1:c.2642T>G | NP_001369733.1:p.Leu881Arg | |
| NM_001382805.1:c.2519T>G | NP_001369734.1:p.Leu840Arg | |
| NM_001382806.1:c.2432T>G | NP_001369735.1:p.Leu811Arg | |
| NM_004448.4:c.3470T>G MANE Select | NP_004439.2:p.Leu1157Arg | |
| NR_110535.2:n.3708T>G |