Linked Data
dbSNP Id:
rs751226373
ExAC:
17:37881022 G / A
gnomAD v2:
17-37881022-G-A
gnomAD v4:
17-39724769-G-A
COSMIC:
COSM3734757
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724769G>A , CM000679.2:g.39724769G>A | GRCh38 |
| NC_000017.10:g.37881022G>A , CM000679.1:g.37881022G>A | GRCh37 |
| NC_000017.9:g.35134548G>A | NCBI36 |
| NG_007503.1:g.41630G>A , LRG_724:g.41630G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2351G>A MANE Select | ENSP00000269571.4:p.Arg784His | |
| ENST00000269571.9:c.2351G>A | ENSP00000269571.4:p.Arg784His | |
| ENST00000406381.6:c.2261G>A | ENSP00000385185.2:p.Arg754His | |
| ENST00000445658.6:c.1523G>A | ENSP00000404047.2:p.Arg508His | |
| ENST00000541774.5:c.2306G>A | ENSP00000446466.1:p.Arg769His | |
| ENST00000578373.5:c.*2141G>A | ENSP00000463427.1:n.*2141G>A | |
| ENST00000580074.1:c.457G>A | ||
| ENST00000583038.5:n.3485G>A | ||
| ENST00000584450.5:c.2351G>A | ENSP00000463714.1:p.Arg784His | |
| ENST00000584601.5:c.2261G>A | ENSP00000462438.1:p.Arg754His | |
| NM_001005862.2:c.2261G>A , LRG_724t1:c.2261G>A | NP_001005862.1:p.Arg754His | |
| NM_001289936.1:c.2306G>A , LRG_724t4:c.2306G>A | NP_001276865.1:p.Arg769His | |
| NM_001289937.1:c.2351G>A | NP_001276866.1:p.Arg784His | |
| NM_004448.3:c.2351G>A , LRG_724t2:c.2351G>A | NP_004439.2:p.Arg784His | |
| NR_110535.1:n.2675G>A | ||
| XM_024450641.1:c.2489G>A | XP_024306409.1:p.Arg830His | |
| XM_024450642.1:c.2444G>A | XP_024306410.1:p.Arg815His | |
| XM_024450643.1:c.2399G>A | XP_024306411.1:p.Arg800His | |
| NM_001005862.3:c.2261G>A | NP_001005862.1:p.Arg754His | |
| NM_001289936.2:c.2306G>A | NP_001276865.1:p.Arg769His | |
| NM_001289937.2:c.2351G>A | NP_001276866.1:p.Arg784His | |
| NM_001382782.1:c.2261G>A | NP_001369711.1:p.Arg754His | |
| NM_001382783.1:c.2261G>A | NP_001369712.1:p.Arg754His | |
| NM_001382784.1:c.2468G>A | NP_001369713.1:p.Arg823His | |
| NM_001382785.1:c.2453G>A | NP_001369714.1:p.Arg818His | |
| NM_001382786.1:c.2432G>A | NP_001369715.1:p.Arg811His | |
| NM_001382787.1:c.2426G>A | NP_001369716.1:p.Arg809His | |
| NM_001382788.1:c.2381G>A | NP_001369717.1:p.Arg794His | |
| NM_001382789.1:c.2372G>A | NP_001369718.1:p.Arg791His | |
| NM_001382790.1:c.2348G>A | NP_001369719.1:p.Arg783His | |
| NM_001382791.1:c.2342G>A | NP_001369720.1:p.Arg781His | |
| NM_001382792.1:c.2315G>A | NP_001369721.1:p.Arg772His | |
| NM_001382793.1:c.2309G>A | NP_001369722.1:p.Arg770His | |
| NM_001382794.1:c.2309G>A | NP_001369723.1:p.Arg770His | |
| NM_001382795.1:c.2303G>A | NP_001369724.1:p.Arg768His | |
| NM_001382796.1:c.2351G>A | NP_001369725.1:p.Arg784His | |
| NM_001382797.1:c.2252G>A | NP_001369726.1:p.Arg751His | |
| NM_001382798.1:c.2351G>A | NP_001369727.1:p.Arg784His | |
| NM_001382799.1:c.2171G>A | NP_001369728.1:p.Arg724His | |
| NM_001382800.1:c.2308-280G>A | NP_001369729.1:n.2308-280G>A | |
| NM_001382801.1:c.2303G>A | NP_001369730.1:p.Arg768His | |
| NM_001382802.1:c.2093G>A | NP_001369731.1:p.Arg698His | |
| NM_001382803.1:c.2309G>A | NP_001369732.1:p.Arg770His | |
| NM_001382804.1:c.1523G>A | NP_001369733.1:p.Arg508His | |
| NM_001382805.1:c.2208+1109G>A | NP_001369734.1:n.2208+1109G>A | |
| NM_001382806.1:c.1313G>A | NP_001369735.1:p.Arg438His | |
| NM_004448.4:c.2351G>A MANE Select | NP_004439.2:p.Arg784His | |
| NR_110535.2:n.2589G>A |