Linked Data
ClinVar Variation Id:
2254252
ClinVar RCV Id:
RCV004108016
dbSNP Id:
rs2059872004
gnomAD v4:
17-39727951-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727951G>C , CM000679.2:g.39727951G>C | GRCh38 |
| NC_000017.10:g.37884204G>C , CM000679.1:g.37884204G>C | GRCh37 |
| NC_000017.9:g.35137730G>C | NCBI36 |
| NG_007503.1:g.44812G>C , LRG_724:g.44812G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3675G>C MANE Select | ENSP00000269571.4:p.Gln1225His | |
| ENST00000269571.9:c.3675G>C | ENSP00000269571.4:p.Gln1225His | |
| ENST00000406381.6:c.3585G>C | ENSP00000385185.2:p.Gln1195His | |
| ENST00000445658.6:c.2847G>C | ENSP00000404047.2:p.Gln949His | |
| ENST00000541774.5:c.3630G>C | ENSP00000446466.1:p.Gln1210His | |
| ENST00000578373.5:c.*3465G>C | ENSP00000463427.1:n.*3465G>C | |
| ENST00000584450.5:c.*254G>C | ENSP00000463714.1:n.*254G>C | |
| ENST00000584601.5:c.3585G>C | ENSP00000462438.1:p.Gln1195His | |
| NM_001005862.2:c.3585G>C , LRG_724t1:c.3585G>C | NP_001005862.1:p.Gln1195His | |
| NM_001289936.1:c.3630G>C , LRG_724t4:c.3630G>C | NP_001276865.1:p.Gln1210His | |
| NM_001289937.1:c.*254G>C | NP_001276866.1:n.*254G>C | |
| NM_004448.3:c.3675G>C , LRG_724t2:c.3675G>C | NP_004439.2:p.Gln1225His | |
| NR_110535.1:n.3999G>C | ||
| XM_024450641.1:c.3813G>C | XP_024306409.1:p.Gln1271His | |
| XM_024450642.1:c.3768G>C | XP_024306410.1:p.Gln1256His | |
| XM_024450643.1:c.3723G>C | XP_024306411.1:p.Gln1241His | |
| NM_001005862.3:c.3585G>C | NP_001005862.1:p.Gln1195His | |
| NM_001289936.2:c.3630G>C | NP_001276865.1:p.Gln1210His | |
| NM_001289937.2:c.*254G>C | NP_001276866.1:n.*254G>C | |
| NM_001382782.1:c.3585G>C | NP_001369711.1:p.Gln1195His | |
| NM_001382783.1:c.3585G>C | NP_001369712.1:p.Gln1195His | |
| NM_001382784.1:c.3792G>C | NP_001369713.1:p.Gln1264His | |
| NM_001382785.1:c.3777G>C | NP_001369714.1:p.Gln1259His | |
| NM_001382786.1:c.3756G>C | NP_001369715.1:p.Gln1252His | |
| NM_001382787.1:c.3750G>C | NP_001369716.1:p.Gln1250His | |
| NM_001382788.1:c.3705G>C | NP_001369717.1:p.Gln1235His | |
| NM_001382789.1:c.3696G>C | NP_001369718.1:p.Gln1232His | |
| NM_001382790.1:c.3672G>C | NP_001369719.1:p.Gln1224His | |
| NM_001382791.1:c.3666G>C | NP_001369720.1:p.Gln1222His | |
| NM_001382792.1:c.3639G>C | NP_001369721.1:p.Gln1213His | |
| NM_001382793.1:c.3633G>C | NP_001369722.1:p.Gln1211His | |
| NM_001382794.1:c.3633G>C | NP_001369723.1:p.Gln1211His | |
| NM_001382795.1:c.3627G>C | NP_001369724.1:p.Gln1209His | |
| NM_001382796.1:c.3588G>C | NP_001369725.1:p.Gln1196His | |
| NM_001382797.1:c.3576G>C | NP_001369726.1:p.Gln1192His | |
| NM_001382798.1:c.3519G>C | NP_001369727.1:p.Gln1173His | |
| NM_001382799.1:c.3495G>C | NP_001369728.1:p.Gln1165His | |
| NM_001382800.1:c.3489G>C | NP_001369729.1:p.Gln1163His | |
| NM_001382801.1:c.3471G>C | NP_001369730.1:p.Gln1157His | |
| NM_001382802.1:c.3417G>C | NP_001369731.1:p.Gln1139His | |
| NM_001382803.1:c.*254G>C | NP_001369732.1:n.*254G>C | |
| NM_001382804.1:c.2847G>C | NP_001369733.1:p.Gln949His | |
| NM_001382805.1:c.2724G>C | NP_001369734.1:p.Gln908His | |
| NM_001382806.1:c.2637G>C | NP_001369735.1:p.Gln879His | |
| NM_004448.4:c.3675G>C MANE Select | NP_004439.2:p.Gln1225His | |
| NR_110535.2:n.3913G>C |