Linked Data
dbSNP Id:
rs539683889
ExAC:
17:37884205 G / A
gnomAD v2:
17-37884205-G-A
gnomAD v3:
17-39727952-G-A
gnomAD v4:
17-39727952-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727952G>A , CM000679.2:g.39727952G>A | GRCh38 |
| NC_000017.10:g.37884205G>A , CM000679.1:g.37884205G>A | GRCh37 |
| NC_000017.9:g.35137731G>A | NCBI36 |
| NG_007503.1:g.44813G>A , LRG_724:g.44813G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3676G>A MANE Select | ENSP00000269571.4:p.Asp1226Asn | |
| ENST00000269571.9:c.3676G>A | ENSP00000269571.4:p.Asp1226Asn | |
| ENST00000406381.6:c.3586G>A | ENSP00000385185.2:p.Asp1196Asn | |
| ENST00000445658.6:c.2848G>A | ENSP00000404047.2:p.Asp950Asn | |
| ENST00000541774.5:c.3631G>A | ENSP00000446466.1:p.Asp1211Asn | |
| ENST00000578373.5:c.*3466G>A | ENSP00000463427.1:n.*3466G>A | |
| ENST00000584450.5:c.*255G>A | ENSP00000463714.1:n.*255G>A | |
| ENST00000584601.5:c.3586G>A | ENSP00000462438.1:p.Asp1196Asn | |
| NM_001005862.2:c.3586G>A , LRG_724t1:c.3586G>A | NP_001005862.1:p.Asp1196Asn | |
| NM_001289936.1:c.3631G>A , LRG_724t4:c.3631G>A | NP_001276865.1:p.Asp1211Asn | |
| NM_001289937.1:c.*255G>A | NP_001276866.1:n.*255G>A | |
| NM_004448.3:c.3676G>A , LRG_724t2:c.3676G>A | NP_004439.2:p.Asp1226Asn | |
| NR_110535.1:n.4000G>A | ||
| XM_024450641.1:c.3814G>A | XP_024306409.1:p.Asp1272Asn | |
| XM_024450642.1:c.3769G>A | XP_024306410.1:p.Asp1257Asn | |
| XM_024450643.1:c.3724G>A | XP_024306411.1:p.Asp1242Asn | |
| NM_001005862.3:c.3586G>A | NP_001005862.1:p.Asp1196Asn | |
| NM_001289936.2:c.3631G>A | NP_001276865.1:p.Asp1211Asn | |
| NM_001289937.2:c.*255G>A | NP_001276866.1:n.*255G>A | |
| NM_001382782.1:c.3586G>A | NP_001369711.1:p.Asp1196Asn | |
| NM_001382783.1:c.3586G>A | NP_001369712.1:p.Asp1196Asn | |
| NM_001382784.1:c.3793G>A | NP_001369713.1:p.Asp1265Asn | |
| NM_001382785.1:c.3778G>A | NP_001369714.1:p.Asp1260Asn | |
| NM_001382786.1:c.3757G>A | NP_001369715.1:p.Asp1253Asn | |
| NM_001382787.1:c.3751G>A | NP_001369716.1:p.Asp1251Asn | |
| NM_001382788.1:c.3706G>A | NP_001369717.1:p.Asp1236Asn | |
| NM_001382789.1:c.3697G>A | NP_001369718.1:p.Asp1233Asn | |
| NM_001382790.1:c.3673G>A | NP_001369719.1:p.Asp1225Asn | |
| NM_001382791.1:c.3667G>A | NP_001369720.1:p.Asp1223Asn | |
| NM_001382792.1:c.3640G>A | NP_001369721.1:p.Asp1214Asn | |
| NM_001382793.1:c.3634G>A | NP_001369722.1:p.Asp1212Asn | |
| NM_001382794.1:c.3634G>A | NP_001369723.1:p.Asp1212Asn | |
| NM_001382795.1:c.3628G>A | NP_001369724.1:p.Asp1210Asn | |
| NM_001382796.1:c.3589G>A | NP_001369725.1:p.Asp1197Asn | |
| NM_001382797.1:c.3577G>A | NP_001369726.1:p.Asp1193Asn | |
| NM_001382798.1:c.3520G>A | NP_001369727.1:p.Asp1174Asn | |
| NM_001382799.1:c.3496G>A | NP_001369728.1:p.Asp1166Asn | |
| NM_001382800.1:c.3490G>A | NP_001369729.1:p.Asp1164Asn | |
| NM_001382801.1:c.3472G>A | NP_001369730.1:p.Asp1158Asn | |
| NM_001382802.1:c.3418G>A | NP_001369731.1:p.Asp1140Asn | |
| NM_001382803.1:c.*255G>A | NP_001369732.1:n.*255G>A | |
| NM_001382804.1:c.2848G>A | NP_001369733.1:p.Asp950Asn | |
| NM_001382805.1:c.2725G>A | NP_001369734.1:p.Asp909Asn | |
| NM_001382806.1:c.2638G>A | NP_001369735.1:p.Asp880Asn | |
| NM_004448.4:c.3676G>A MANE Select | NP_004439.2:p.Asp1226Asn | |
| NR_110535.2:n.3914G>A |