Linked Data
ClinVar Variation Id:
1429912
ClinVar RCV Id:
RCV001939165
dbSNP Id:
rs763027953
ExAC:
17:37884073 A / C
gnomAD v2:
17-37884073-A-C
gnomAD v3:
17-39727820-A-C
gnomAD v4:
17-39727820-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727820A>C , CM000679.2:g.39727820A>C | GRCh38 |
| NC_000017.10:g.37884073A>C , CM000679.1:g.37884073A>C | GRCh37 |
| NC_000017.9:g.35137599A>C | NCBI36 |
| NG_007503.1:g.44681A>C , LRG_724:g.44681A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3544A>C MANE Select | ENSP00000269571.4:p.Lys1182Gln | |
| ENST00000269571.9:c.3544A>C | ENSP00000269571.4:p.Lys1182Gln | |
| ENST00000406381.6:c.3454A>C | ENSP00000385185.2:p.Lys1152Gln | |
| ENST00000445658.6:c.2716A>C | ENSP00000404047.2:p.Lys906Gln | |
| ENST00000541774.5:c.3499A>C | ENSP00000446466.1:p.Lys1167Gln | |
| ENST00000578373.5:c.*3334A>C | ENSP00000463427.1:n.*3334A>C | |
| ENST00000584450.5:c.*123A>C | ENSP00000463714.1:n.*123A>C | |
| ENST00000584601.5:c.3454A>C | ENSP00000462438.1:p.Lys1152Gln | |
| NM_001005862.2:c.3454A>C , LRG_724t1:c.3454A>C | NP_001005862.1:p.Lys1152Gln | |
| NM_001289936.1:c.3499A>C , LRG_724t4:c.3499A>C | NP_001276865.1:p.Lys1167Gln | |
| NM_001289937.1:c.*123A>C | NP_001276866.1:n.*123A>C | |
| NM_004448.3:c.3544A>C , LRG_724t2:c.3544A>C | NP_004439.2:p.Lys1182Gln | |
| NR_110535.1:n.3868A>C | ||
| XM_024450641.1:c.3682A>C | XP_024306409.1:p.Lys1228Gln | |
| XM_024450642.1:c.3637A>C | XP_024306410.1:p.Lys1213Gln | |
| XM_024450643.1:c.3592A>C | XP_024306411.1:p.Lys1198Gln | |
| NM_001005862.3:c.3454A>C | NP_001005862.1:p.Lys1152Gln | |
| NM_001289936.2:c.3499A>C | NP_001276865.1:p.Lys1167Gln | |
| NM_001289937.2:c.*123A>C | NP_001276866.1:n.*123A>C | |
| NM_001382782.1:c.3454A>C | NP_001369711.1:p.Lys1152Gln | |
| NM_001382783.1:c.3454A>C | NP_001369712.1:p.Lys1152Gln | |
| NM_001382784.1:c.3661A>C | NP_001369713.1:p.Lys1221Gln | |
| NM_001382785.1:c.3646A>C | NP_001369714.1:p.Lys1216Gln | |
| NM_001382786.1:c.3625A>C | NP_001369715.1:p.Lys1209Gln | |
| NM_001382787.1:c.3619A>C | NP_001369716.1:p.Lys1207Gln | |
| NM_001382788.1:c.3574A>C | NP_001369717.1:p.Lys1192Gln | |
| NM_001382789.1:c.3565A>C | NP_001369718.1:p.Lys1189Gln | |
| NM_001382790.1:c.3541A>C | NP_001369719.1:p.Lys1181Gln | |
| NM_001382791.1:c.3535A>C | NP_001369720.1:p.Lys1179Gln | |
| NM_001382792.1:c.3508A>C | NP_001369721.1:p.Lys1170Gln | |
| NM_001382793.1:c.3502A>C | NP_001369722.1:p.Lys1168Gln | |
| NM_001382794.1:c.3502A>C | NP_001369723.1:p.Lys1168Gln | |
| NM_001382795.1:c.3496A>C | NP_001369724.1:p.Lys1166Gln | |
| NM_001382796.1:c.3457A>C | NP_001369725.1:p.Lys1153Gln | |
| NM_001382797.1:c.3445A>C | NP_001369726.1:p.Lys1149Gln | |
| NM_001382798.1:c.3388A>C | NP_001369727.1:p.Lys1130Gln | |
| NM_001382799.1:c.3364A>C | NP_001369728.1:p.Lys1122Gln | |
| NM_001382800.1:c.3358A>C | NP_001369729.1:p.Lys1120Gln | |
| NM_001382801.1:c.3340A>C | NP_001369730.1:p.Lys1114Gln | |
| NM_001382802.1:c.3286A>C | NP_001369731.1:p.Lys1096Gln | |
| NM_001382803.1:c.*123A>C | NP_001369732.1:n.*123A>C | |
| NM_001382804.1:c.2716A>C | NP_001369733.1:p.Lys906Gln | |
| NM_001382805.1:c.2593A>C | NP_001369734.1:p.Lys865Gln | |
| NM_001382806.1:c.2506A>C | NP_001369735.1:p.Lys836Gln | |
| NM_004448.4:c.3544A>C MANE Select | NP_004439.2:p.Lys1182Gln | |
| NR_110535.2:n.3782A>C |