Linked Data
dbSNP Id:
rs747967722
ExAC:
17:37881327 G / A
gnomAD v2:
17-37881327-G-A
gnomAD v4:
17-39725074-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39725074G>A , CM000679.2:g.39725074G>A | GRCh38 |
| NC_000017.10:g.37881327G>A , CM000679.1:g.37881327G>A | GRCh37 |
| NC_000017.9:g.35134853G>A | NCBI36 |
| NG_007503.1:g.41935G>A , LRG_724:g.41935G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2519G>A MANE Select | ENSP00000269571.4:p.Arg840Gln | |
| ENST00000269571.9:c.2519G>A | ENSP00000269571.4:p.Arg840Gln | |
| ENST00000406381.6:c.2429G>A | ENSP00000385185.2:p.Arg810Gln | |
| ENST00000445658.6:c.1691G>A | ENSP00000404047.2:p.Arg564Gln | |
| ENST00000541774.5:c.2474G>A | ENSP00000446466.1:p.Arg825Gln | |
| ENST00000578373.5:c.*2309G>A | ENSP00000463427.1:n.*2309G>A | |
| ENST00000580074.1:c.625G>A | ||
| ENST00000583038.5:n.3653G>A | ||
| ENST00000584450.5:c.2519G>A | ENSP00000463714.1:p.Arg840Gln | |
| ENST00000584601.5:c.2429G>A | ENSP00000462438.1:p.Arg810Gln | |
| NM_001005862.2:c.2429G>A , LRG_724t1:c.2429G>A | NP_001005862.1:p.Arg810Gln | |
| NM_001289936.1:c.2474G>A , LRG_724t4:c.2474G>A | NP_001276865.1:p.Arg825Gln | |
| NM_001289937.1:c.2519G>A | NP_001276866.1:p.Arg840Gln | |
| NM_004448.3:c.2519G>A , LRG_724t2:c.2519G>A | NP_004439.2:p.Arg840Gln | |
| NR_110535.1:n.2843G>A | ||
| XM_024450641.1:c.2657G>A | XP_024306409.1:p.Arg886Gln | |
| XM_024450642.1:c.2612G>A | XP_024306410.1:p.Arg871Gln | |
| XM_024450643.1:c.2567G>A | XP_024306411.1:p.Arg856Gln | |
| NM_001005862.3:c.2429G>A | NP_001005862.1:p.Arg810Gln | |
| NM_001289936.2:c.2474G>A | NP_001276865.1:p.Arg825Gln | |
| NM_001289937.2:c.2519G>A | NP_001276866.1:p.Arg840Gln | |
| NM_001382782.1:c.2429G>A | NP_001369711.1:p.Arg810Gln | |
| NM_001382783.1:c.2429G>A | NP_001369712.1:p.Arg810Gln | |
| NM_001382784.1:c.2636G>A | NP_001369713.1:p.Arg879Gln | |
| NM_001382785.1:c.2621G>A | NP_001369714.1:p.Arg874Gln | |
| NM_001382786.1:c.2600G>A | NP_001369715.1:p.Arg867Gln | |
| NM_001382787.1:c.2594G>A | NP_001369716.1:p.Arg865Gln | |
| NM_001382788.1:c.2549G>A | NP_001369717.1:p.Arg850Gln | |
| NM_001382789.1:c.2540G>A | NP_001369718.1:p.Arg847Gln | |
| NM_001382790.1:c.2516G>A | NP_001369719.1:p.Arg839Gln | |
| NM_001382791.1:c.2510G>A | NP_001369720.1:p.Arg837Gln | |
| NM_001382792.1:c.2483G>A | NP_001369721.1:p.Arg828Gln | |
| NM_001382793.1:c.2477G>A | NP_001369722.1:p.Arg826Gln | |
| NM_001382794.1:c.2477G>A | NP_001369723.1:p.Arg826Gln | |
| NM_001382795.1:c.2471G>A | NP_001369724.1:p.Arg824Gln | |
| NM_001382796.1:c.2519G>A | NP_001369725.1:p.Arg840Gln | |
| NM_001382797.1:c.2420G>A | NP_001369726.1:p.Arg807Gln | |
| NM_001382798.1:c.2493+163G>A | NP_001369727.1:n.2493+163G>A | |
| NM_001382799.1:c.2339G>A | NP_001369728.1:p.Arg780Gln | |
| NM_001382800.1:c.2333G>A | NP_001369729.1:p.Arg778Gln | |
| NM_001382801.1:c.2445+163G>A | NP_001369730.1:n.2445+163G>A | |
| NM_001382802.1:c.2261G>A | NP_001369731.1:p.Arg754Gln | |
| NM_001382803.1:c.2477G>A | NP_001369732.1:p.Arg826Gln | |
| NM_001382804.1:c.1691G>A | NP_001369733.1:p.Arg564Gln | |
| NM_001382805.1:c.2208+1414G>A | NP_001369734.1:n.2208+1414G>A | |
| NM_001382806.1:c.1481G>A | NP_001369735.1:p.Arg494Gln | |
| NM_004448.4:c.2519G>A MANE Select | NP_004439.2:p.Arg840Gln | |
| NR_110535.2:n.2757G>A |