Linked Data
dbSNP Id:
rs977391376
gnomAD v2:
17-37881093-G-C
gnomAD v3:
17-39724840-G-C
gnomAD v4:
17-39724840-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724840G>C , CM000679.2:g.39724840G>C | GRCh38 |
| NC_000017.10:g.37881093G>C , CM000679.1:g.37881093G>C | GRCh37 |
| NC_000017.9:g.35134619G>C | NCBI36 |
| NG_007503.1:g.41701G>C , LRG_724:g.41701G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.2422G>C MANE Select | ENSP00000269571.4:p.Asp808His | |
| ENST00000269571.9:c.2422G>C | ENSP00000269571.4:p.Asp808His | |
| ENST00000406381.6:c.2332G>C | ENSP00000385185.2:p.Asp778His | |
| ENST00000445658.6:c.1594G>C | ENSP00000404047.2:p.Asp532His | |
| ENST00000541774.5:c.2377G>C | ENSP00000446466.1:p.Asp793His | |
| ENST00000578373.5:c.*2212G>C | ENSP00000463427.1:n.*2212G>C | |
| ENST00000580074.1:c.528G>C | ||
| ENST00000583038.5:n.3556G>C | ||
| ENST00000584450.5:c.2422G>C | ENSP00000463714.1:p.Asp808His | |
| ENST00000584601.5:c.2332G>C | ENSP00000462438.1:p.Asp778His | |
| NM_001005862.2:c.2332G>C , LRG_724t1:c.2332G>C | NP_001005862.1:p.Asp778His | |
| NM_001289936.1:c.2377G>C , LRG_724t4:c.2377G>C | NP_001276865.1:p.Asp793His | |
| NM_001289937.1:c.2422G>C | NP_001276866.1:p.Asp808His | |
| NM_004448.3:c.2422G>C , LRG_724t2:c.2422G>C | NP_004439.2:p.Asp808His | |
| NR_110535.1:n.2746G>C | ||
| XM_024450641.1:c.2560G>C | XP_024306409.1:p.Asp854His | |
| XM_024450642.1:c.2515G>C | XP_024306410.1:p.Asp839His | |
| XM_024450643.1:c.2470G>C | XP_024306411.1:p.Asp824His | |
| NM_001005862.3:c.2332G>C | NP_001005862.1:p.Asp778His | |
| NM_001289936.2:c.2377G>C | NP_001276865.1:p.Asp793His | |
| NM_001289937.2:c.2422G>C | NP_001276866.1:p.Asp808His | |
| NM_001382782.1:c.2332G>C | NP_001369711.1:p.Asp778His | |
| NM_001382783.1:c.2332G>C | NP_001369712.1:p.Asp778His | |
| NM_001382784.1:c.2539G>C | NP_001369713.1:p.Asp847His | |
| NM_001382785.1:c.2524G>C | NP_001369714.1:p.Asp842His | |
| NM_001382786.1:c.2503G>C | NP_001369715.1:p.Asp835His | |
| NM_001382787.1:c.2497G>C | NP_001369716.1:p.Asp833His | |
| NM_001382788.1:c.2452G>C | NP_001369717.1:p.Asp818His | |
| NM_001382789.1:c.2443G>C | NP_001369718.1:p.Asp815His | |
| NM_001382790.1:c.2419G>C | NP_001369719.1:p.Asp807His | |
| NM_001382791.1:c.2413G>C | NP_001369720.1:p.Asp805His | |
| NM_001382792.1:c.2386G>C | NP_001369721.1:p.Asp796His | |
| NM_001382793.1:c.2380G>C | NP_001369722.1:p.Asp794His | |
| NM_001382794.1:c.2380G>C | NP_001369723.1:p.Asp794His | |
| NM_001382795.1:c.2374G>C | NP_001369724.1:p.Asp792His | |
| NM_001382796.1:c.2422G>C | NP_001369725.1:p.Asp808His | |
| NM_001382797.1:c.2323G>C | NP_001369726.1:p.Asp775His | |
| NM_001382798.1:c.2422G>C | NP_001369727.1:p.Asp808His | |
| NM_001382799.1:c.2242G>C | NP_001369728.1:p.Asp748His | |
| NM_001382800.1:c.2308-209G>C | NP_001369729.1:n.2308-209G>C | |
| NM_001382801.1:c.2374G>C | NP_001369730.1:p.Asp792His | |
| NM_001382802.1:c.2164G>C | NP_001369731.1:p.Asp722His | |
| NM_001382803.1:c.2380G>C | NP_001369732.1:p.Asp794His | |
| NM_001382804.1:c.1594G>C | NP_001369733.1:p.Asp532His | |
| NM_001382805.1:c.2208+1180G>C | NP_001369734.1:n.2208+1180G>C | |
| NM_001382806.1:c.1384G>C | NP_001369735.1:p.Asp462His | |
| NM_004448.4:c.2422G>C MANE Select | NP_004439.2:p.Asp808His | |
| NR_110535.2:n.2660G>C |