Linked Data
ClinVar Variation Id:
3090060
ClinVar RCV Id:
RCV004380479
dbSNP Id:
rs768526064
ExAC:
17:37883656 C / G
gnomAD v2:
17-37883656-C-G
gnomAD v3:
17-39727403-C-G
gnomAD v4:
17-39727403-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727403C>G , CM000679.2:g.39727403C>G | GRCh38 |
| NC_000017.10:g.37883656C>G , CM000679.1:g.37883656C>G | GRCh37 |
| NC_000017.9:g.35137182C>G | NCBI36 |
| NG_007503.1:g.44264C>G , LRG_724:g.44264C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3268C>G MANE Select | ENSP00000269571.4:p.Leu1090Val | |
| ENST00000269571.9:c.3268C>G | ENSP00000269571.4:p.Leu1090Val | |
| ENST00000406381.6:c.3178C>G | ENSP00000385185.2:p.Leu1060Val | |
| ENST00000445658.6:c.2440C>G | ENSP00000404047.2:p.Leu814Val | |
| ENST00000541774.5:c.3223C>G | ENSP00000446466.1:p.Leu1075Val | |
| ENST00000578373.5:c.*3058C>G | ENSP00000463427.1:n.*3058C>G | |
| ENST00000584450.5:c.3160-286C>G | ENSP00000463714.1:n.3160-286C>G | |
| ENST00000584601.5:c.3178C>G | ENSP00000462438.1:p.Leu1060Val | |
| NM_001005862.2:c.3178C>G , LRG_724t1:c.3178C>G | NP_001005862.1:p.Leu1060Val | |
| NM_001289936.1:c.3223C>G , LRG_724t4:c.3223C>G | NP_001276865.1:p.Leu1075Val | |
| NM_001289937.1:c.3160-286C>G | NP_001276866.1:n.3160-286C>G | |
| NM_004448.3:c.3268C>G , LRG_724t2:c.3268C>G | NP_004439.2:p.Leu1090Val | |
| NR_110535.1:n.3592C>G | ||
| XM_024450641.1:c.3406C>G | XP_024306409.1:p.Leu1136Val | |
| XM_024450642.1:c.3361C>G | XP_024306410.1:p.Leu1121Val | |
| XM_024450643.1:c.3316C>G | XP_024306411.1:p.Leu1106Val | |
| NM_001005862.3:c.3178C>G | NP_001005862.1:p.Leu1060Val | |
| NM_001289936.2:c.3223C>G | NP_001276865.1:p.Leu1075Val | |
| NM_001289937.2:c.3160-286C>G | NP_001276866.1:n.3160-286C>G | |
| NM_001382782.1:c.3178C>G | NP_001369711.1:p.Leu1060Val | |
| NM_001382783.1:c.3178C>G | NP_001369712.1:p.Leu1060Val | |
| NM_001382784.1:c.3385C>G | NP_001369713.1:p.Leu1129Val | |
| NM_001382785.1:c.3370C>G | NP_001369714.1:p.Leu1124Val | |
| NM_001382786.1:c.3349C>G | NP_001369715.1:p.Leu1117Val | |
| NM_001382787.1:c.3343C>G | NP_001369716.1:p.Leu1115Val | |
| NM_001382788.1:c.3298C>G | NP_001369717.1:p.Leu1100Val | |
| NM_001382789.1:c.3289C>G | NP_001369718.1:p.Leu1097Val | |
| NM_001382790.1:c.3265C>G | NP_001369719.1:p.Leu1089Val | |
| NM_001382791.1:c.3259C>G | NP_001369720.1:p.Leu1087Val | |
| NM_001382792.1:c.3232C>G | NP_001369721.1:p.Leu1078Val | |
| NM_001382793.1:c.3226C>G | NP_001369722.1:p.Leu1076Val | |
| NM_001382794.1:c.3226C>G | NP_001369723.1:p.Leu1076Val | |
| NM_001382795.1:c.3220C>G | NP_001369724.1:p.Leu1074Val | |
| NM_001382796.1:c.3181C>G | NP_001369725.1:p.Leu1061Val | |
| NM_001382797.1:c.3169C>G | NP_001369726.1:p.Leu1057Val | |
| NM_001382798.1:c.3112C>G | NP_001369727.1:p.Leu1038Val | |
| NM_001382799.1:c.3088C>G | NP_001369728.1:p.Leu1030Val | |
| NM_001382800.1:c.3082C>G | NP_001369729.1:p.Leu1028Val | |
| NM_001382801.1:c.3064C>G | NP_001369730.1:p.Leu1022Val | |
| NM_001382802.1:c.3010C>G | NP_001369731.1:p.Leu1004Val | |
| NM_001382803.1:c.3118-286C>G | NP_001369732.1:n.3118-286C>G | |
| NM_001382804.1:c.2440C>G | NP_001369733.1:p.Leu814Val | |
| NM_001382805.1:c.2317C>G | NP_001369734.1:p.Leu773Val | |
| NM_001382806.1:c.2230C>G | NP_001369735.1:p.Leu744Val | |
| NM_004448.4:c.3268C>G MANE Select | NP_004439.2:p.Leu1090Val | |
| NR_110535.2:n.3506C>G |