Linked Data
ClinVar Variation Id:
853330
ClinVar RCV Id:
RCV001058118
dbSNP Id:
rs148211805
ExAC:
17:37883763 T / A
gnomAD v2:
17-37883763-T-A
gnomAD v3:
17-39727510-T-A
gnomAD v4:
17-39727510-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727510T>A , CM000679.2:g.39727510T>A | GRCh38 |
| NC_000017.10:g.37883763T>A , CM000679.1:g.37883763T>A | GRCh37 |
| NC_000017.9:g.35137289T>A | NCBI36 |
| NG_007503.1:g.44371T>A , LRG_724:g.44371T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3375T>A MANE Select | ENSP00000269571.4:p.Asp1125Glu | |
| ENST00000269571.9:c.3375T>A | ENSP00000269571.4:p.Asp1125Glu | |
| ENST00000406381.6:c.3285T>A | ENSP00000385185.2:p.Asp1095Glu | |
| ENST00000445658.6:c.2547T>A | ENSP00000404047.2:p.Asp849Glu | |
| ENST00000541774.5:c.3330T>A | ENSP00000446466.1:p.Asp1110Glu | |
| ENST00000578373.5:c.*3165T>A | ENSP00000463427.1:n.*3165T>A | |
| ENST00000584450.5:c.3160-179T>A | ENSP00000463714.1:n.3160-179T>A | |
| ENST00000584601.5:c.3285T>A | ENSP00000462438.1:p.Asp1095Glu | |
| NM_001005862.2:c.3285T>A , LRG_724t1:c.3285T>A | NP_001005862.1:p.Asp1095Glu | |
| NM_001289936.1:c.3330T>A , LRG_724t4:c.3330T>A | NP_001276865.1:p.Asp1110Glu | |
| NM_001289937.1:c.3160-179T>A | NP_001276866.1:n.3160-179T>A | |
| NM_004448.3:c.3375T>A , LRG_724t2:c.3375T>A | NP_004439.2:p.Asp1125Glu | |
| NR_110535.1:n.3699T>A | ||
| XM_024450641.1:c.3513T>A | XP_024306409.1:p.Asp1171Glu | |
| XM_024450642.1:c.3468T>A | XP_024306410.1:p.Asp1156Glu | |
| XM_024450643.1:c.3423T>A | XP_024306411.1:p.Asp1141Glu | |
| NM_001005862.3:c.3285T>A | NP_001005862.1:p.Asp1095Glu | |
| NM_001289936.2:c.3330T>A | NP_001276865.1:p.Asp1110Glu | |
| NM_001289937.2:c.3160-179T>A | NP_001276866.1:n.3160-179T>A | |
| NM_001382782.1:c.3285T>A | NP_001369711.1:p.Asp1095Glu | |
| NM_001382783.1:c.3285T>A | NP_001369712.1:p.Asp1095Glu | |
| NM_001382784.1:c.3492T>A | NP_001369713.1:p.Asp1164Glu | |
| NM_001382785.1:c.3477T>A | NP_001369714.1:p.Asp1159Glu | |
| NM_001382786.1:c.3456T>A | NP_001369715.1:p.Asp1152Glu | |
| NM_001382787.1:c.3450T>A | NP_001369716.1:p.Asp1150Glu | |
| NM_001382788.1:c.3405T>A | NP_001369717.1:p.Asp1135Glu | |
| NM_001382789.1:c.3396T>A | NP_001369718.1:p.Asp1132Glu | |
| NM_001382790.1:c.3372T>A | NP_001369719.1:p.Asp1124Glu | |
| NM_001382791.1:c.3366T>A | NP_001369720.1:p.Asp1122Glu | |
| NM_001382792.1:c.3339T>A | NP_001369721.1:p.Asp1113Glu | |
| NM_001382793.1:c.3333T>A | NP_001369722.1:p.Asp1111Glu | |
| NM_001382794.1:c.3333T>A | NP_001369723.1:p.Asp1111Glu | |
| NM_001382795.1:c.3327T>A | NP_001369724.1:p.Asp1109Glu | |
| NM_001382796.1:c.3288T>A | NP_001369725.1:p.Asp1096Glu | |
| NM_001382797.1:c.3276T>A | NP_001369726.1:p.Asp1092Glu | |
| NM_001382798.1:c.3219T>A | NP_001369727.1:p.Asp1073Glu | |
| NM_001382799.1:c.3195T>A | NP_001369728.1:p.Asp1065Glu | |
| NM_001382800.1:c.3189T>A | NP_001369729.1:p.Asp1063Glu | |
| NM_001382801.1:c.3171T>A | NP_001369730.1:p.Asp1057Glu | |
| NM_001382802.1:c.3117T>A | NP_001369731.1:p.Asp1039Glu | |
| NM_001382803.1:c.3118-179T>A | NP_001369732.1:n.3118-179T>A | |
| NM_001382804.1:c.2547T>A | NP_001369733.1:p.Asp849Glu | |
| NM_001382805.1:c.2424T>A | NP_001369734.1:p.Asp808Glu | |
| NM_001382806.1:c.2337T>A | NP_001369735.1:p.Asp779Glu | |
| NM_004448.4:c.3375T>A MANE Select | NP_004439.2:p.Asp1125Glu | |
| NR_110535.2:n.3613T>A |