Linked Data
ClinVar Variation Id:
2167872
dbSNP Id:
rs866086063
gnomAD v3:
17-39727772-A-G
gnomAD v4:
17-39727772-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727772A>G , CM000679.2:g.39727772A>G | GRCh38 |
| NC_000017.10:g.37884025A>G , CM000679.1:g.37884025A>G | GRCh37 |
| NC_000017.9:g.35137551A>G | NCBI36 |
| NG_007503.1:g.44633A>G , LRG_724:g.44633A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3496A>G MANE Select | ENSP00000269571.4:p.Thr1166Ala | |
| ENST00000269571.9:c.3496A>G | ENSP00000269571.4:p.Thr1166Ala | |
| ENST00000406381.6:c.3406A>G | ENSP00000385185.2:p.Thr1136Ala | |
| ENST00000445658.6:c.2668A>G | ENSP00000404047.2:p.Thr890Ala | |
| ENST00000541774.5:c.3451A>G | ENSP00000446466.1:p.Thr1151Ala | |
| ENST00000578373.5:c.*3286A>G | ENSP00000463427.1:n.*3286A>G | |
| ENST00000584450.5:c.*75A>G | ENSP00000463714.1:n.*75A>G | |
| ENST00000584601.5:c.3406A>G | ENSP00000462438.1:p.Thr1136Ala | |
| NM_001005862.2:c.3406A>G , LRG_724t1:c.3406A>G | NP_001005862.1:p.Thr1136Ala | |
| NM_001289936.1:c.3451A>G , LRG_724t4:c.3451A>G | NP_001276865.1:p.Thr1151Ala | |
| NM_001289937.1:c.*75A>G | NP_001276866.1:n.*75A>G | |
| NM_004448.3:c.3496A>G , LRG_724t2:c.3496A>G | NP_004439.2:p.Thr1166Ala | |
| NR_110535.1:n.3820A>G | ||
| XM_024450641.1:c.3634A>G | XP_024306409.1:p.Thr1212Ala | |
| XM_024450642.1:c.3589A>G | XP_024306410.1:p.Thr1197Ala | |
| XM_024450643.1:c.3544A>G | XP_024306411.1:p.Thr1182Ala | |
| NM_001005862.3:c.3406A>G | NP_001005862.1:p.Thr1136Ala | |
| NM_001289936.2:c.3451A>G | NP_001276865.1:p.Thr1151Ala | |
| NM_001289937.2:c.*75A>G | NP_001276866.1:n.*75A>G | |
| NM_001382782.1:c.3406A>G | NP_001369711.1:p.Thr1136Ala | |
| NM_001382783.1:c.3406A>G | NP_001369712.1:p.Thr1136Ala | |
| NM_001382784.1:c.3613A>G | NP_001369713.1:p.Thr1205Ala | |
| NM_001382785.1:c.3598A>G | NP_001369714.1:p.Thr1200Ala | |
| NM_001382786.1:c.3577A>G | NP_001369715.1:p.Thr1193Ala | |
| NM_001382787.1:c.3571A>G | NP_001369716.1:p.Thr1191Ala | |
| NM_001382788.1:c.3526A>G | NP_001369717.1:p.Thr1176Ala | |
| NM_001382789.1:c.3517A>G | NP_001369718.1:p.Thr1173Ala | |
| NM_001382790.1:c.3493A>G | NP_001369719.1:p.Thr1165Ala | |
| NM_001382791.1:c.3487A>G | NP_001369720.1:p.Thr1163Ala | |
| NM_001382792.1:c.3460A>G | NP_001369721.1:p.Thr1154Ala | |
| NM_001382793.1:c.3454A>G | NP_001369722.1:p.Thr1152Ala | |
| NM_001382794.1:c.3454A>G | NP_001369723.1:p.Thr1152Ala | |
| NM_001382795.1:c.3448A>G | NP_001369724.1:p.Thr1150Ala | |
| NM_001382796.1:c.3409A>G | NP_001369725.1:p.Thr1137Ala | |
| NM_001382797.1:c.3397A>G | NP_001369726.1:p.Thr1133Ala | |
| NM_001382798.1:c.3340A>G | NP_001369727.1:p.Thr1114Ala | |
| NM_001382799.1:c.3316A>G | NP_001369728.1:p.Thr1106Ala | |
| NM_001382800.1:c.3310A>G | NP_001369729.1:p.Thr1104Ala | |
| NM_001382801.1:c.3292A>G | NP_001369730.1:p.Thr1098Ala | |
| NM_001382802.1:c.3238A>G | NP_001369731.1:p.Thr1080Ala | |
| NM_001382803.1:c.*75A>G | NP_001369732.1:n.*75A>G | |
| NM_001382804.1:c.2668A>G | NP_001369733.1:p.Thr890Ala | |
| NM_001382805.1:c.2545A>G | NP_001369734.1:p.Thr849Ala | |
| NM_001382806.1:c.2458A>G | NP_001369735.1:p.Thr820Ala | |
| NM_004448.4:c.3496A>G MANE Select | NP_004439.2:p.Thr1166Ala | |
| NR_110535.2:n.3734A>G |