Linked Data
ClinVar Variation Id:
2713992
ClinVar RCV Id:
RCV003550686
dbSNP Id:
rs1178111397
gnomAD v2:
17-37883603-G-C
gnomAD v3:
17-39727350-G-C
gnomAD v4:
17-39727350-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727350G>C , CM000679.2:g.39727350G>C | GRCh38 |
| NC_000017.10:g.37883603G>C , CM000679.1:g.37883603G>C | GRCh37 |
| NC_000017.9:g.35137129G>C | NCBI36 |
| NG_007503.1:g.44211G>C , LRG_724:g.44211G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3215G>C MANE Select | ENSP00000269571.4:p.Arg1072Thr | |
| ENST00000269571.9:c.3215G>C | ENSP00000269571.4:p.Arg1072Thr | |
| ENST00000406381.6:c.3125G>C | ENSP00000385185.2:p.Arg1042Thr | |
| ENST00000445658.6:c.2387G>C | ENSP00000404047.2:p.Arg796Thr | |
| ENST00000541774.5:c.3170G>C | ENSP00000446466.1:p.Arg1057Thr | |
| ENST00000578373.5:c.*3005G>C | ENSP00000463427.1:n.*3005G>C | |
| ENST00000584450.5:c.3160-339G>C | ENSP00000463714.1:n.3160-339G>C | |
| ENST00000584601.5:c.3125G>C | ENSP00000462438.1:p.Arg1042Thr | |
| NM_001005862.2:c.3125G>C , LRG_724t1:c.3125G>C | NP_001005862.1:p.Arg1042Thr | |
| NM_001289936.1:c.3170G>C , LRG_724t4:c.3170G>C | NP_001276865.1:p.Arg1057Thr | |
| NM_001289937.1:c.3160-339G>C | NP_001276866.1:n.3160-339G>C | |
| NM_004448.3:c.3215G>C , LRG_724t2:c.3215G>C | NP_004439.2:p.Arg1072Thr | |
| NR_110535.1:n.3539G>C | ||
| XM_024450641.1:c.3353G>C | XP_024306409.1:p.Arg1118Thr | |
| XM_024450642.1:c.3308G>C | XP_024306410.1:p.Arg1103Thr | |
| XM_024450643.1:c.3263G>C | XP_024306411.1:p.Arg1088Thr | |
| NM_001005862.3:c.3125G>C | NP_001005862.1:p.Arg1042Thr | |
| NM_001289936.2:c.3170G>C | NP_001276865.1:p.Arg1057Thr | |
| NM_001289937.2:c.3160-339G>C | NP_001276866.1:n.3160-339G>C | |
| NM_001382782.1:c.3125G>C | NP_001369711.1:p.Arg1042Thr | |
| NM_001382783.1:c.3125G>C | NP_001369712.1:p.Arg1042Thr | |
| NM_001382784.1:c.3332G>C | NP_001369713.1:p.Arg1111Thr | |
| NM_001382785.1:c.3317G>C | NP_001369714.1:p.Arg1106Thr | |
| NM_001382786.1:c.3296G>C | NP_001369715.1:p.Arg1099Thr | |
| NM_001382787.1:c.3290G>C | NP_001369716.1:p.Arg1097Thr | |
| NM_001382788.1:c.3245G>C | NP_001369717.1:p.Arg1082Thr | |
| NM_001382789.1:c.3236G>C | NP_001369718.1:p.Arg1079Thr | |
| NM_001382790.1:c.3212G>C | NP_001369719.1:p.Arg1071Thr | |
| NM_001382791.1:c.3206G>C | NP_001369720.1:p.Arg1069Thr | |
| NM_001382792.1:c.3179G>C | NP_001369721.1:p.Arg1060Thr | |
| NM_001382793.1:c.3173G>C | NP_001369722.1:p.Arg1058Thr | |
| NM_001382794.1:c.3173G>C | NP_001369723.1:p.Arg1058Thr | |
| NM_001382795.1:c.3167G>C | NP_001369724.1:p.Arg1056Thr | |
| NM_001382796.1:c.3128G>C | NP_001369725.1:p.Arg1043Thr | |
| NM_001382797.1:c.3116G>C | NP_001369726.1:p.Arg1039Thr | |
| NM_001382798.1:c.3059G>C | NP_001369727.1:p.Arg1020Thr | |
| NM_001382799.1:c.3035G>C | NP_001369728.1:p.Arg1012Thr | |
| NM_001382800.1:c.3029G>C | NP_001369729.1:p.Arg1010Thr | |
| NM_001382801.1:c.3011G>C | NP_001369730.1:p.Arg1004Thr | |
| NM_001382802.1:c.2957G>C | NP_001369731.1:p.Arg986Thr | |
| NM_001382803.1:c.3118-339G>C | NP_001369732.1:n.3118-339G>C | |
| NM_001382804.1:c.2387G>C | NP_001369733.1:p.Arg796Thr | |
| NM_001382805.1:c.2264G>C | NP_001369734.1:p.Arg755Thr | |
| NM_001382806.1:c.2177G>C | NP_001369735.1:p.Arg726Thr | |
| NM_004448.4:c.3215G>C MANE Select | NP_004439.2:p.Arg1072Thr | |
| NR_110535.2:n.3453G>C |