Linked Data
dbSNP Id:
rs202149348
ExAC:
17:37883606 C / G
gnomAD v2:
17-37883606-C-G
gnomAD v3:
17-39727353-C-G
gnomAD v4:
17-39727353-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727353C>G , CM000679.2:g.39727353C>G | GRCh38 |
| NC_000017.10:g.37883606C>G , CM000679.1:g.37883606C>G | GRCh37 |
| NC_000017.9:g.35137132C>G | NCBI36 |
| NG_007503.1:g.44214C>G , LRG_724:g.44214C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3218C>G MANE Select | ENSP00000269571.4:p.Ser1073Cys | |
| ENST00000269571.9:c.3218C>G | ENSP00000269571.4:p.Ser1073Cys | |
| ENST00000406381.6:c.3128C>G | ENSP00000385185.2:p.Ser1043Cys | |
| ENST00000445658.6:c.2390C>G | ENSP00000404047.2:p.Ser797Cys | |
| ENST00000541774.5:c.3173C>G | ENSP00000446466.1:p.Ser1058Cys | |
| ENST00000578373.5:c.*3008C>G | ENSP00000463427.1:n.*3008C>G | |
| ENST00000584450.5:c.3160-336C>G | ENSP00000463714.1:n.3160-336C>G | |
| ENST00000584601.5:c.3128C>G | ENSP00000462438.1:p.Ser1043Cys | |
| NM_001005862.2:c.3128C>G , LRG_724t1:c.3128C>G | NP_001005862.1:p.Ser1043Cys | |
| NM_001289936.1:c.3173C>G , LRG_724t4:c.3173C>G | NP_001276865.1:p.Ser1058Cys | |
| NM_001289937.1:c.3160-336C>G | NP_001276866.1:n.3160-336C>G | |
| NM_004448.3:c.3218C>G , LRG_724t2:c.3218C>G | NP_004439.2:p.Ser1073Cys | |
| NR_110535.1:n.3542C>G | ||
| XM_024450641.1:c.3356C>G | XP_024306409.1:p.Ser1119Cys | |
| XM_024450642.1:c.3311C>G | XP_024306410.1:p.Ser1104Cys | |
| XM_024450643.1:c.3266C>G | XP_024306411.1:p.Ser1089Cys | |
| NM_001005862.3:c.3128C>G | NP_001005862.1:p.Ser1043Cys | |
| NM_001289936.2:c.3173C>G | NP_001276865.1:p.Ser1058Cys | |
| NM_001289937.2:c.3160-336C>G | NP_001276866.1:n.3160-336C>G | |
| NM_001382782.1:c.3128C>G | NP_001369711.1:p.Ser1043Cys | |
| NM_001382783.1:c.3128C>G | NP_001369712.1:p.Ser1043Cys | |
| NM_001382784.1:c.3335C>G | NP_001369713.1:p.Ser1112Cys | |
| NM_001382785.1:c.3320C>G | NP_001369714.1:p.Ser1107Cys | |
| NM_001382786.1:c.3299C>G | NP_001369715.1:p.Ser1100Cys | |
| NM_001382787.1:c.3293C>G | NP_001369716.1:p.Ser1098Cys | |
| NM_001382788.1:c.3248C>G | NP_001369717.1:p.Ser1083Cys | |
| NM_001382789.1:c.3239C>G | NP_001369718.1:p.Ser1080Cys | |
| NM_001382790.1:c.3215C>G | NP_001369719.1:p.Ser1072Cys | |
| NM_001382791.1:c.3209C>G | NP_001369720.1:p.Ser1070Cys | |
| NM_001382792.1:c.3182C>G | NP_001369721.1:p.Ser1061Cys | |
| NM_001382793.1:c.3176C>G | NP_001369722.1:p.Ser1059Cys | |
| NM_001382794.1:c.3176C>G | NP_001369723.1:p.Ser1059Cys | |
| NM_001382795.1:c.3170C>G | NP_001369724.1:p.Ser1057Cys | |
| NM_001382796.1:c.3131C>G | NP_001369725.1:p.Ser1044Cys | |
| NM_001382797.1:c.3119C>G | NP_001369726.1:p.Ser1040Cys | |
| NM_001382798.1:c.3062C>G | NP_001369727.1:p.Ser1021Cys | |
| NM_001382799.1:c.3038C>G | NP_001369728.1:p.Ser1013Cys | |
| NM_001382800.1:c.3032C>G | NP_001369729.1:p.Ser1011Cys | |
| NM_001382801.1:c.3014C>G | NP_001369730.1:p.Ser1005Cys | |
| NM_001382802.1:c.2960C>G | NP_001369731.1:p.Ser987Cys | |
| NM_001382803.1:c.3118-336C>G | NP_001369732.1:n.3118-336C>G | |
| NM_001382804.1:c.2390C>G | NP_001369733.1:p.Ser797Cys | |
| NM_001382805.1:c.2267C>G | NP_001369734.1:p.Ser756Cys | |
| NM_001382806.1:c.2180C>G | NP_001369735.1:p.Ser727Cys | |
| NM_004448.4:c.3218C>G MANE Select | NP_004439.2:p.Ser1073Cys | |
| NR_110535.2:n.3456C>G |