Linked Data
dbSNP Id:
rs368135224
ExAC:
17:37883739 A / G
gnomAD v2:
17-37883739-A-G
gnomAD v3:
17-39727486-A-G
gnomAD v4:
17-39727486-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727486A>G , CM000679.2:g.39727486A>G | GRCh38 |
| NC_000017.10:g.37883739A>G , CM000679.1:g.37883739A>G | GRCh37 |
| NC_000017.9:g.35137265A>G | NCBI36 |
| NG_007503.1:g.44347A>G , LRG_724:g.44347A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3351A>G MANE Select | ENSP00000269571.4:p.Thr1117= | |
| ENST00000269571.9:c.3351A>G | ENSP00000269571.4:p.Thr1117= | |
| ENST00000406381.6:c.3261A>G | ENSP00000385185.2:p.Thr1087= | |
| ENST00000445658.6:c.2523A>G | ENSP00000404047.2:p.Thr841= | |
| ENST00000541774.5:c.3306A>G | ENSP00000446466.1:p.Thr1102= | |
| ENST00000578373.5:c.*3141A>G | ENSP00000463427.1:n.*3141A>G | |
| ENST00000584450.5:c.3160-203A>G | ENSP00000463714.1:n.3160-203A>G | |
| ENST00000584601.5:c.3261A>G | ENSP00000462438.1:p.Thr1087= | |
| NM_001005862.2:c.3261A>G , LRG_724t1:c.3261A>G | NP_001005862.1:p.Thr1087= | |
| NM_001289936.1:c.3306A>G , LRG_724t4:c.3306A>G | NP_001276865.1:p.Thr1102= | |
| NM_001289937.1:c.3160-203A>G | NP_001276866.1:n.3160-203A>G | |
| NM_004448.3:c.3351A>G , LRG_724t2:c.3351A>G | NP_004439.2:p.Thr1117= | |
| NR_110535.1:n.3675A>G | ||
| XM_024450641.1:c.3489A>G | XP_024306409.1:p.Thr1163= | |
| XM_024450642.1:c.3444A>G | XP_024306410.1:p.Thr1148= | |
| XM_024450643.1:c.3399A>G | XP_024306411.1:p.Thr1133= | |
| NM_001005862.3:c.3261A>G | NP_001005862.1:p.Thr1087= | |
| NM_001289936.2:c.3306A>G | NP_001276865.1:p.Thr1102= | |
| NM_001289937.2:c.3160-203A>G | NP_001276866.1:n.3160-203A>G | |
| NM_001382782.1:c.3261A>G | NP_001369711.1:p.Thr1087= | |
| NM_001382783.1:c.3261A>G | NP_001369712.1:p.Thr1087= | |
| NM_001382784.1:c.3468A>G | NP_001369713.1:p.Thr1156= | |
| NM_001382785.1:c.3453A>G | NP_001369714.1:p.Thr1151= | |
| NM_001382786.1:c.3432A>G | NP_001369715.1:p.Thr1144= | |
| NM_001382787.1:c.3426A>G | NP_001369716.1:p.Thr1142= | |
| NM_001382788.1:c.3381A>G | NP_001369717.1:p.Thr1127= | |
| NM_001382789.1:c.3372A>G | NP_001369718.1:p.Thr1124= | |
| NM_001382790.1:c.3348A>G | NP_001369719.1:p.Thr1116= | |
| NM_001382791.1:c.3342A>G | NP_001369720.1:p.Thr1114= | |
| NM_001382792.1:c.3315A>G | NP_001369721.1:p.Thr1105= | |
| NM_001382793.1:c.3309A>G | NP_001369722.1:p.Thr1103= | |
| NM_001382794.1:c.3309A>G | NP_001369723.1:p.Thr1103= | |
| NM_001382795.1:c.3303A>G | NP_001369724.1:p.Thr1101= | |
| NM_001382796.1:c.3264A>G | NP_001369725.1:p.Thr1088= | |
| NM_001382797.1:c.3252A>G | NP_001369726.1:p.Thr1084= | |
| NM_001382798.1:c.3195A>G | NP_001369727.1:p.Thr1065= | |
| NM_001382799.1:c.3171A>G | NP_001369728.1:p.Thr1057= | |
| NM_001382800.1:c.3165A>G | NP_001369729.1:p.Thr1055= | |
| NM_001382801.1:c.3147A>G | NP_001369730.1:p.Thr1049= | |
| NM_001382802.1:c.3093A>G | NP_001369731.1:p.Thr1031= | |
| NM_001382803.1:c.3118-203A>G | NP_001369732.1:n.3118-203A>G | |
| NM_001382804.1:c.2523A>G | NP_001369733.1:p.Thr841= | |
| NM_001382805.1:c.2400A>G | NP_001369734.1:p.Thr800= | |
| NM_001382806.1:c.2313A>G | NP_001369735.1:p.Thr771= | |
| NM_004448.4:c.3351A>G MANE Select | NP_004439.2:p.Thr1117= | |
| NR_110535.2:n.3589A>G |