Linked Data
ClinVar Variation Id:
2175997
ClinVar RCV Id:
RCV002605883
dbSNP Id:
rs959969530
gnomAD v2:
17-37884016-G-A
gnomAD v4:
17-39727763-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727763G>A , CM000679.2:g.39727763G>A | GRCh38 |
| NC_000017.10:g.37884016G>A , CM000679.1:g.37884016G>A | GRCh37 |
| NC_000017.9:g.35137542G>A | NCBI36 |
| NG_007503.1:g.44624G>A , LRG_724:g.44624G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3487G>A MANE Select | ENSP00000269571.4:p.Ala1163Thr | |
| ENST00000269571.9:c.3487G>A | ENSP00000269571.4:p.Ala1163Thr | |
| ENST00000406381.6:c.3397G>A | ENSP00000385185.2:p.Ala1133Thr | |
| ENST00000445658.6:c.2659G>A | ENSP00000404047.2:p.Ala887Thr | |
| ENST00000541774.5:c.3442G>A | ENSP00000446466.1:p.Ala1148Thr | |
| ENST00000578373.5:c.*3277G>A | ENSP00000463427.1:n.*3277G>A | |
| ENST00000584450.5:c.*66G>A | ENSP00000463714.1:n.*66G>A | |
| ENST00000584601.5:c.3397G>A | ENSP00000462438.1:p.Ala1133Thr | |
| NM_001005862.2:c.3397G>A , LRG_724t1:c.3397G>A | NP_001005862.1:p.Ala1133Thr | |
| NM_001289936.1:c.3442G>A , LRG_724t4:c.3442G>A | NP_001276865.1:p.Ala1148Thr | |
| NM_001289937.1:c.*66G>A | NP_001276866.1:n.*66G>A | |
| NM_004448.3:c.3487G>A , LRG_724t2:c.3487G>A | NP_004439.2:p.Ala1163Thr | |
| NR_110535.1:n.3811G>A | ||
| XM_024450641.1:c.3625G>A | XP_024306409.1:p.Ala1209Thr | |
| XM_024450642.1:c.3580G>A | XP_024306410.1:p.Ala1194Thr | |
| XM_024450643.1:c.3535G>A | XP_024306411.1:p.Ala1179Thr | |
| NM_001005862.3:c.3397G>A | NP_001005862.1:p.Ala1133Thr | |
| NM_001289936.2:c.3442G>A | NP_001276865.1:p.Ala1148Thr | |
| NM_001289937.2:c.*66G>A | NP_001276866.1:n.*66G>A | |
| NM_001382782.1:c.3397G>A | NP_001369711.1:p.Ala1133Thr | |
| NM_001382783.1:c.3397G>A | NP_001369712.1:p.Ala1133Thr | |
| NM_001382784.1:c.3604G>A | NP_001369713.1:p.Ala1202Thr | |
| NM_001382785.1:c.3589G>A | NP_001369714.1:p.Ala1197Thr | |
| NM_001382786.1:c.3568G>A | NP_001369715.1:p.Ala1190Thr | |
| NM_001382787.1:c.3562G>A | NP_001369716.1:p.Ala1188Thr | |
| NM_001382788.1:c.3517G>A | NP_001369717.1:p.Ala1173Thr | |
| NM_001382789.1:c.3508G>A | NP_001369718.1:p.Ala1170Thr | |
| NM_001382790.1:c.3484G>A | NP_001369719.1:p.Ala1162Thr | |
| NM_001382791.1:c.3478G>A | NP_001369720.1:p.Ala1160Thr | |
| NM_001382792.1:c.3451G>A | NP_001369721.1:p.Ala1151Thr | |
| NM_001382793.1:c.3445G>A | NP_001369722.1:p.Ala1149Thr | |
| NM_001382794.1:c.3445G>A | NP_001369723.1:p.Ala1149Thr | |
| NM_001382795.1:c.3439G>A | NP_001369724.1:p.Ala1147Thr | |
| NM_001382796.1:c.3400G>A | NP_001369725.1:p.Ala1134Thr | |
| NM_001382797.1:c.3388G>A | NP_001369726.1:p.Ala1130Thr | |
| NM_001382798.1:c.3331G>A | NP_001369727.1:p.Ala1111Thr | |
| NM_001382799.1:c.3307G>A | NP_001369728.1:p.Ala1103Thr | |
| NM_001382800.1:c.3301G>A | NP_001369729.1:p.Ala1101Thr | |
| NM_001382801.1:c.3283G>A | NP_001369730.1:p.Ala1095Thr | |
| NM_001382802.1:c.3229G>A | NP_001369731.1:p.Ala1077Thr | |
| NM_001382803.1:c.*66G>A | NP_001369732.1:n.*66G>A | |
| NM_001382804.1:c.2659G>A | NP_001369733.1:p.Ala887Thr | |
| NM_001382805.1:c.2536G>A | NP_001369734.1:p.Ala846Thr | |
| NM_001382806.1:c.2449G>A | NP_001369735.1:p.Ala817Thr | |
| NM_004448.4:c.3487G>A MANE Select | NP_004439.2:p.Ala1163Thr | |
| NR_110535.2:n.3725G>A |