Linked Data
dbSNP Id:
rs779955263
ExAC:
17:37883640 T / A
gnomAD v2:
17-37883640-T-A
gnomAD v4:
17-39727387-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727387T>A , CM000679.2:g.39727387T>A | GRCh38 |
| NC_000017.10:g.37883640T>A , CM000679.1:g.37883640T>A | GRCh37 |
| NC_000017.9:g.35137166T>A | NCBI36 |
| NG_007503.1:g.44248T>A , LRG_724:g.44248T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3252T>A MANE Select | ENSP00000269571.4:p.Asp1084Glu | |
| ENST00000269571.9:c.3252T>A | ENSP00000269571.4:p.Asp1084Glu | |
| ENST00000406381.6:c.3162T>A | ENSP00000385185.2:p.Asp1054Glu | |
| ENST00000445658.6:c.2424T>A | ENSP00000404047.2:p.Asp808Glu | |
| ENST00000541774.5:c.3207T>A | ENSP00000446466.1:p.Asp1069Glu | |
| ENST00000578373.5:c.*3042T>A | ENSP00000463427.1:n.*3042T>A | |
| ENST00000584450.5:c.3160-302T>A | ENSP00000463714.1:n.3160-302T>A | |
| ENST00000584601.5:c.3162T>A | ENSP00000462438.1:p.Asp1054Glu | |
| NM_001005862.2:c.3162T>A , LRG_724t1:c.3162T>A | NP_001005862.1:p.Asp1054Glu | |
| NM_001289936.1:c.3207T>A , LRG_724t4:c.3207T>A | NP_001276865.1:p.Asp1069Glu | |
| NM_001289937.1:c.3160-302T>A | NP_001276866.1:n.3160-302T>A | |
| NM_004448.3:c.3252T>A , LRG_724t2:c.3252T>A | NP_004439.2:p.Asp1084Glu | |
| NR_110535.1:n.3576T>A | ||
| XM_024450641.1:c.3390T>A | XP_024306409.1:p.Asp1130Glu | |
| XM_024450642.1:c.3345T>A | XP_024306410.1:p.Asp1115Glu | |
| XM_024450643.1:c.3300T>A | XP_024306411.1:p.Asp1100Glu | |
| NM_001005862.3:c.3162T>A | NP_001005862.1:p.Asp1054Glu | |
| NM_001289936.2:c.3207T>A | NP_001276865.1:p.Asp1069Glu | |
| NM_001289937.2:c.3160-302T>A | NP_001276866.1:n.3160-302T>A | |
| NM_001382782.1:c.3162T>A | NP_001369711.1:p.Asp1054Glu | |
| NM_001382783.1:c.3162T>A | NP_001369712.1:p.Asp1054Glu | |
| NM_001382784.1:c.3369T>A | NP_001369713.1:p.Asp1123Glu | |
| NM_001382785.1:c.3354T>A | NP_001369714.1:p.Asp1118Glu | |
| NM_001382786.1:c.3333T>A | NP_001369715.1:p.Asp1111Glu | |
| NM_001382787.1:c.3327T>A | NP_001369716.1:p.Asp1109Glu | |
| NM_001382788.1:c.3282T>A | NP_001369717.1:p.Asp1094Glu | |
| NM_001382789.1:c.3273T>A | NP_001369718.1:p.Asp1091Glu | |
| NM_001382790.1:c.3249T>A | NP_001369719.1:p.Asp1083Glu | |
| NM_001382791.1:c.3243T>A | NP_001369720.1:p.Asp1081Glu | |
| NM_001382792.1:c.3216T>A | NP_001369721.1:p.Asp1072Glu | |
| NM_001382793.1:c.3210T>A | NP_001369722.1:p.Asp1070Glu | |
| NM_001382794.1:c.3210T>A | NP_001369723.1:p.Asp1070Glu | |
| NM_001382795.1:c.3204T>A | NP_001369724.1:p.Asp1068Glu | |
| NM_001382796.1:c.3165T>A | NP_001369725.1:p.Asp1055Glu | |
| NM_001382797.1:c.3153T>A | NP_001369726.1:p.Asp1051Glu | |
| NM_001382798.1:c.3096T>A | NP_001369727.1:p.Asp1032Glu | |
| NM_001382799.1:c.3072T>A | NP_001369728.1:p.Asp1024Glu | |
| NM_001382800.1:c.3066T>A | NP_001369729.1:p.Asp1022Glu | |
| NM_001382801.1:c.3048T>A | NP_001369730.1:p.Asp1016Glu | |
| NM_001382802.1:c.2994T>A | NP_001369731.1:p.Asp998Glu | |
| NM_001382803.1:c.3118-302T>A | NP_001369732.1:n.3118-302T>A | |
| NM_001382804.1:c.2424T>A | NP_001369733.1:p.Asp808Glu | |
| NM_001382805.1:c.2301T>A | NP_001369734.1:p.Asp767Glu | |
| NM_001382806.1:c.2214T>A | NP_001369735.1:p.Asp738Glu | |
| NM_004448.4:c.3252T>A MANE Select | NP_004439.2:p.Asp1084Glu | |
| NR_110535.2:n.3490T>A |