Linked Data
dbSNP Id:
rs760245870
ExAC:
17:37883677 G / A
gnomAD v2:
17-37883677-G-A
gnomAD v3:
17-39727424-G-A
gnomAD v4:
17-39727424-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727424G>A , CM000679.2:g.39727424G>A | GRCh38 |
| NC_000017.10:g.37883677G>A , CM000679.1:g.37883677G>A | GRCh37 |
| NC_000017.9:g.35137203G>A | NCBI36 |
| NG_007503.1:g.44285G>A , LRG_724:g.44285G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3289G>A MANE Select | ENSP00000269571.4:p.Gly1097Arg | |
| ENST00000269571.9:c.3289G>A | ENSP00000269571.4:p.Gly1097Arg | |
| ENST00000406381.6:c.3199G>A | ENSP00000385185.2:p.Gly1067Arg | |
| ENST00000445658.6:c.2461G>A | ENSP00000404047.2:p.Gly821Arg | |
| ENST00000541774.5:c.3244G>A | ENSP00000446466.1:p.Gly1082Arg | |
| ENST00000578373.5:c.*3079G>A | ENSP00000463427.1:n.*3079G>A | |
| ENST00000584450.5:c.3160-265G>A | ENSP00000463714.1:n.3160-265G>A | |
| ENST00000584601.5:c.3199G>A | ENSP00000462438.1:p.Gly1067Arg | |
| NM_001005862.2:c.3199G>A , LRG_724t1:c.3199G>A | NP_001005862.1:p.Gly1067Arg | |
| NM_001289936.1:c.3244G>A , LRG_724t4:c.3244G>A | NP_001276865.1:p.Gly1082Arg | |
| NM_001289937.1:c.3160-265G>A | NP_001276866.1:n.3160-265G>A | |
| NM_004448.3:c.3289G>A , LRG_724t2:c.3289G>A | NP_004439.2:p.Gly1097Arg | |
| NR_110535.1:n.3613G>A | ||
| XM_024450641.1:c.3427G>A | XP_024306409.1:p.Gly1143Arg | |
| XM_024450642.1:c.3382G>A | XP_024306410.1:p.Gly1128Arg | |
| XM_024450643.1:c.3337G>A | XP_024306411.1:p.Gly1113Arg | |
| NM_001005862.3:c.3199G>A | NP_001005862.1:p.Gly1067Arg | |
| NM_001289936.2:c.3244G>A | NP_001276865.1:p.Gly1082Arg | |
| NM_001289937.2:c.3160-265G>A | NP_001276866.1:n.3160-265G>A | |
| NM_001382782.1:c.3199G>A | NP_001369711.1:p.Gly1067Arg | |
| NM_001382783.1:c.3199G>A | NP_001369712.1:p.Gly1067Arg | |
| NM_001382784.1:c.3406G>A | NP_001369713.1:p.Gly1136Arg | |
| NM_001382785.1:c.3391G>A | NP_001369714.1:p.Gly1131Arg | |
| NM_001382786.1:c.3370G>A | NP_001369715.1:p.Gly1124Arg | |
| NM_001382787.1:c.3364G>A | NP_001369716.1:p.Gly1122Arg | |
| NM_001382788.1:c.3319G>A | NP_001369717.1:p.Gly1107Arg | |
| NM_001382789.1:c.3310G>A | NP_001369718.1:p.Gly1104Arg | |
| NM_001382790.1:c.3286G>A | NP_001369719.1:p.Gly1096Arg | |
| NM_001382791.1:c.3280G>A | NP_001369720.1:p.Gly1094Arg | |
| NM_001382792.1:c.3253G>A | NP_001369721.1:p.Gly1085Arg | |
| NM_001382793.1:c.3247G>A | NP_001369722.1:p.Gly1083Arg | |
| NM_001382794.1:c.3247G>A | NP_001369723.1:p.Gly1083Arg | |
| NM_001382795.1:c.3241G>A | NP_001369724.1:p.Gly1081Arg | |
| NM_001382796.1:c.3202G>A | NP_001369725.1:p.Gly1068Arg | |
| NM_001382797.1:c.3190G>A | NP_001369726.1:p.Gly1064Arg | |
| NM_001382798.1:c.3133G>A | NP_001369727.1:p.Gly1045Arg | |
| NM_001382799.1:c.3109G>A | NP_001369728.1:p.Gly1037Arg | |
| NM_001382800.1:c.3103G>A | NP_001369729.1:p.Gly1035Arg | |
| NM_001382801.1:c.3085G>A | NP_001369730.1:p.Gly1029Arg | |
| NM_001382802.1:c.3031G>A | NP_001369731.1:p.Gly1011Arg | |
| NM_001382803.1:c.3118-265G>A | NP_001369732.1:n.3118-265G>A | |
| NM_001382804.1:c.2461G>A | NP_001369733.1:p.Gly821Arg | |
| NM_001382805.1:c.2338G>A | NP_001369734.1:p.Gly780Arg | |
| NM_001382806.1:c.2251G>A | NP_001369735.1:p.Gly751Arg | |
| NM_004448.4:c.3289G>A MANE Select | NP_004439.2:p.Gly1097Arg | |
| NR_110535.2:n.3527G>A |