Linked Data
dbSNP Id:
rs754310116
ExAC:
17:37883590 G / C
gnomAD v2:
17-37883590-G-C
gnomAD v3:
17-39727337-G-C
gnomAD v4:
17-39727337-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727337G>C , CM000679.2:g.39727337G>C | GRCh38 |
| NC_000017.10:g.37883590G>C , CM000679.1:g.37883590G>C | GRCh37 |
| NC_000017.9:g.35137116G>C | NCBI36 |
| NG_007503.1:g.44198G>C , LRG_724:g.44198G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3202G>C MANE Select | ENSP00000269571.4:p.Glu1068Gln | |
| ENST00000269571.9:c.3202G>C | ENSP00000269571.4:p.Glu1068Gln | |
| ENST00000406381.6:c.3112G>C | ENSP00000385185.2:p.Glu1038Gln | |
| ENST00000445658.6:c.2374G>C | ENSP00000404047.2:p.Glu792Gln | |
| ENST00000541774.5:c.3157G>C | ENSP00000446466.1:p.Glu1053Gln | |
| ENST00000578373.5:c.*2992G>C | ENSP00000463427.1:n.*2992G>C | |
| ENST00000584450.5:c.3159+334G>C | ENSP00000463714.1:n.3159+334G>C | |
| ENST00000584601.5:c.3112G>C | ENSP00000462438.1:p.Glu1038Gln | |
| NM_001005862.2:c.3112G>C , LRG_724t1:c.3112G>C | NP_001005862.1:p.Glu1038Gln | |
| NM_001289936.1:c.3157G>C , LRG_724t4:c.3157G>C | NP_001276865.1:p.Glu1053Gln | |
| NM_001289937.1:c.3159+334G>C | NP_001276866.1:n.3159+334G>C | |
| NM_004448.3:c.3202G>C , LRG_724t2:c.3202G>C | NP_004439.2:p.Glu1068Gln | |
| NR_110535.1:n.3526G>C | ||
| XM_024450641.1:c.3340G>C | XP_024306409.1:p.Glu1114Gln | |
| XM_024450642.1:c.3295G>C | XP_024306410.1:p.Glu1099Gln | |
| XM_024450643.1:c.3250G>C | XP_024306411.1:p.Glu1084Gln | |
| NM_001005862.3:c.3112G>C | NP_001005862.1:p.Glu1038Gln | |
| NM_001289936.2:c.3157G>C | NP_001276865.1:p.Glu1053Gln | |
| NM_001289937.2:c.3159+334G>C | NP_001276866.1:n.3159+334G>C | |
| NM_001382782.1:c.3112G>C | NP_001369711.1:p.Glu1038Gln | |
| NM_001382783.1:c.3112G>C | NP_001369712.1:p.Glu1038Gln | |
| NM_001382784.1:c.3319G>C | NP_001369713.1:p.Glu1107Gln | |
| NM_001382785.1:c.3304G>C | NP_001369714.1:p.Glu1102Gln | |
| NM_001382786.1:c.3283G>C | NP_001369715.1:p.Glu1095Gln | |
| NM_001382787.1:c.3277G>C | NP_001369716.1:p.Glu1093Gln | |
| NM_001382788.1:c.3232G>C | NP_001369717.1:p.Glu1078Gln | |
| NM_001382789.1:c.3223G>C | NP_001369718.1:p.Glu1075Gln | |
| NM_001382790.1:c.3199G>C | NP_001369719.1:p.Glu1067Gln | |
| NM_001382791.1:c.3193G>C | NP_001369720.1:p.Glu1065Gln | |
| NM_001382792.1:c.3166G>C | NP_001369721.1:p.Glu1056Gln | |
| NM_001382793.1:c.3160G>C | NP_001369722.1:p.Glu1054Gln | |
| NM_001382794.1:c.3160G>C | NP_001369723.1:p.Glu1054Gln | |
| NM_001382795.1:c.3154G>C | NP_001369724.1:p.Glu1052Gln | |
| NM_001382796.1:c.3115G>C | NP_001369725.1:p.Glu1039Gln | |
| NM_001382797.1:c.3103G>C | NP_001369726.1:p.Glu1035Gln | |
| NM_001382798.1:c.3046G>C | NP_001369727.1:p.Glu1016Gln | |
| NM_001382799.1:c.3022G>C | NP_001369728.1:p.Glu1008Gln | |
| NM_001382800.1:c.3016G>C | NP_001369729.1:p.Glu1006Gln | |
| NM_001382801.1:c.2998G>C | NP_001369730.1:p.Glu1000Gln | |
| NM_001382802.1:c.2944G>C | NP_001369731.1:p.Glu982Gln | |
| NM_001382803.1:c.3117+334G>C | NP_001369732.1:n.3117+334G>C | |
| NM_001382804.1:c.2374G>C | NP_001369733.1:p.Glu792Gln | |
| NM_001382805.1:c.2251G>C | NP_001369734.1:p.Glu751Gln | |
| NM_001382806.1:c.2164G>C | NP_001369735.1:p.Glu722Gln | |
| NM_004448.4:c.3202G>C MANE Select | NP_004439.2:p.Glu1068Gln | |
| NR_110535.2:n.3440G>C |