Linked Data
dbSNP Id:
rs749154778
ExAC:
17:37883651 G / A
gnomAD v2:
17-37883651-G-A
gnomAD v4:
17-39727398-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727398G>A , CM000679.2:g.39727398G>A | GRCh38 |
| NC_000017.10:g.37883651G>A , CM000679.1:g.37883651G>A | GRCh37 |
| NC_000017.9:g.35137177G>A | NCBI36 |
| NG_007503.1:g.44259G>A , LRG_724:g.44259G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3263G>A MANE Select | ENSP00000269571.4:p.Gly1088Asp | |
| ENST00000269571.9:c.3263G>A | ENSP00000269571.4:p.Gly1088Asp | |
| ENST00000406381.6:c.3173G>A | ENSP00000385185.2:p.Gly1058Asp | |
| ENST00000445658.6:c.2435G>A | ENSP00000404047.2:p.Gly812Asp | |
| ENST00000541774.5:c.3218G>A | ENSP00000446466.1:p.Gly1073Asp | |
| ENST00000578373.5:c.*3053G>A | ENSP00000463427.1:n.*3053G>A | |
| ENST00000584450.5:c.3160-291G>A | ENSP00000463714.1:n.3160-291G>A | |
| ENST00000584601.5:c.3173G>A | ENSP00000462438.1:p.Gly1058Asp | |
| NM_001005862.2:c.3173G>A , LRG_724t1:c.3173G>A | NP_001005862.1:p.Gly1058Asp | |
| NM_001289936.1:c.3218G>A , LRG_724t4:c.3218G>A | NP_001276865.1:p.Gly1073Asp | |
| NM_001289937.1:c.3160-291G>A | NP_001276866.1:n.3160-291G>A | |
| NM_004448.3:c.3263G>A , LRG_724t2:c.3263G>A | NP_004439.2:p.Gly1088Asp | |
| NR_110535.1:n.3587G>A | ||
| XM_024450641.1:c.3401G>A | XP_024306409.1:p.Gly1134Asp | |
| XM_024450642.1:c.3356G>A | XP_024306410.1:p.Gly1119Asp | |
| XM_024450643.1:c.3311G>A | XP_024306411.1:p.Gly1104Asp | |
| NM_001005862.3:c.3173G>A | NP_001005862.1:p.Gly1058Asp | |
| NM_001289936.2:c.3218G>A | NP_001276865.1:p.Gly1073Asp | |
| NM_001289937.2:c.3160-291G>A | NP_001276866.1:n.3160-291G>A | |
| NM_001382782.1:c.3173G>A | NP_001369711.1:p.Gly1058Asp | |
| NM_001382783.1:c.3173G>A | NP_001369712.1:p.Gly1058Asp | |
| NM_001382784.1:c.3380G>A | NP_001369713.1:p.Gly1127Asp | |
| NM_001382785.1:c.3365G>A | NP_001369714.1:p.Gly1122Asp | |
| NM_001382786.1:c.3344G>A | NP_001369715.1:p.Gly1115Asp | |
| NM_001382787.1:c.3338G>A | NP_001369716.1:p.Gly1113Asp | |
| NM_001382788.1:c.3293G>A | NP_001369717.1:p.Gly1098Asp | |
| NM_001382789.1:c.3284G>A | NP_001369718.1:p.Gly1095Asp | |
| NM_001382790.1:c.3260G>A | NP_001369719.1:p.Gly1087Asp | |
| NM_001382791.1:c.3254G>A | NP_001369720.1:p.Gly1085Asp | |
| NM_001382792.1:c.3227G>A | NP_001369721.1:p.Gly1076Asp | |
| NM_001382793.1:c.3221G>A | NP_001369722.1:p.Gly1074Asp | |
| NM_001382794.1:c.3221G>A | NP_001369723.1:p.Gly1074Asp | |
| NM_001382795.1:c.3215G>A | NP_001369724.1:p.Gly1072Asp | |
| NM_001382796.1:c.3176G>A | NP_001369725.1:p.Gly1059Asp | |
| NM_001382797.1:c.3164G>A | NP_001369726.1:p.Gly1055Asp | |
| NM_001382798.1:c.3107G>A | NP_001369727.1:p.Gly1036Asp | |
| NM_001382799.1:c.3083G>A | NP_001369728.1:p.Gly1028Asp | |
| NM_001382800.1:c.3077G>A | NP_001369729.1:p.Gly1026Asp | |
| NM_001382801.1:c.3059G>A | NP_001369730.1:p.Gly1020Asp | |
| NM_001382802.1:c.3005G>A | NP_001369731.1:p.Gly1002Asp | |
| NM_001382803.1:c.3118-291G>A | NP_001369732.1:n.3118-291G>A | |
| NM_001382804.1:c.2435G>A | NP_001369733.1:p.Gly812Asp | |
| NM_001382805.1:c.2312G>A | NP_001369734.1:p.Gly771Asp | |
| NM_001382806.1:c.2225G>A | NP_001369735.1:p.Gly742Asp | |
| NM_004448.4:c.3263G>A MANE Select | NP_004439.2:p.Gly1088Asp | |
| NR_110535.2:n.3501G>A |