Linked Data
dbSNP Id:
rs757332075
ExAC:
17:37883755 G / C
gnomAD v2:
17-37883755-G-C
gnomAD v4:
17-39727502-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727502G>C , CM000679.2:g.39727502G>C | GRCh38 |
| NC_000017.10:g.37883755G>C , CM000679.1:g.37883755G>C | GRCh37 |
| NC_000017.9:g.35137281G>C | NCBI36 |
| NG_007503.1:g.44363G>C , LRG_724:g.44363G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3367G>C MANE Select | ENSP00000269571.4:p.Glu1123Gln | |
| ENST00000269571.9:c.3367G>C | ENSP00000269571.4:p.Glu1123Gln | |
| ENST00000406381.6:c.3277G>C | ENSP00000385185.2:p.Glu1093Gln | |
| ENST00000445658.6:c.2539G>C | ENSP00000404047.2:p.Glu847Gln | |
| ENST00000541774.5:c.3322G>C | ENSP00000446466.1:p.Glu1108Gln | |
| ENST00000578373.5:c.*3157G>C | ENSP00000463427.1:n.*3157G>C | |
| ENST00000584450.5:c.3160-187G>C | ENSP00000463714.1:n.3160-187G>C | |
| ENST00000584601.5:c.3277G>C | ENSP00000462438.1:p.Glu1093Gln | |
| NM_001005862.2:c.3277G>C , LRG_724t1:c.3277G>C | NP_001005862.1:p.Glu1093Gln | |
| NM_001289936.1:c.3322G>C , LRG_724t4:c.3322G>C | NP_001276865.1:p.Glu1108Gln | |
| NM_001289937.1:c.3160-187G>C | NP_001276866.1:n.3160-187G>C | |
| NM_004448.3:c.3367G>C , LRG_724t2:c.3367G>C | NP_004439.2:p.Glu1123Gln | |
| NR_110535.1:n.3691G>C | ||
| XM_024450641.1:c.3505G>C | XP_024306409.1:p.Glu1169Gln | |
| XM_024450642.1:c.3460G>C | XP_024306410.1:p.Glu1154Gln | |
| XM_024450643.1:c.3415G>C | XP_024306411.1:p.Glu1139Gln | |
| NM_001005862.3:c.3277G>C | NP_001005862.1:p.Glu1093Gln | |
| NM_001289936.2:c.3322G>C | NP_001276865.1:p.Glu1108Gln | |
| NM_001289937.2:c.3160-187G>C | NP_001276866.1:n.3160-187G>C | |
| NM_001382782.1:c.3277G>C | NP_001369711.1:p.Glu1093Gln | |
| NM_001382783.1:c.3277G>C | NP_001369712.1:p.Glu1093Gln | |
| NM_001382784.1:c.3484G>C | NP_001369713.1:p.Glu1162Gln | |
| NM_001382785.1:c.3469G>C | NP_001369714.1:p.Glu1157Gln | |
| NM_001382786.1:c.3448G>C | NP_001369715.1:p.Glu1150Gln | |
| NM_001382787.1:c.3442G>C | NP_001369716.1:p.Glu1148Gln | |
| NM_001382788.1:c.3397G>C | NP_001369717.1:p.Glu1133Gln | |
| NM_001382789.1:c.3388G>C | NP_001369718.1:p.Glu1130Gln | |
| NM_001382790.1:c.3364G>C | NP_001369719.1:p.Glu1122Gln | |
| NM_001382791.1:c.3358G>C | NP_001369720.1:p.Glu1120Gln | |
| NM_001382792.1:c.3331G>C | NP_001369721.1:p.Glu1111Gln | |
| NM_001382793.1:c.3325G>C | NP_001369722.1:p.Glu1109Gln | |
| NM_001382794.1:c.3325G>C | NP_001369723.1:p.Glu1109Gln | |
| NM_001382795.1:c.3319G>C | NP_001369724.1:p.Glu1107Gln | |
| NM_001382796.1:c.3280G>C | NP_001369725.1:p.Glu1094Gln | |
| NM_001382797.1:c.3268G>C | NP_001369726.1:p.Glu1090Gln | |
| NM_001382798.1:c.3211G>C | NP_001369727.1:p.Glu1071Gln | |
| NM_001382799.1:c.3187G>C | NP_001369728.1:p.Glu1063Gln | |
| NM_001382800.1:c.3181G>C | NP_001369729.1:p.Glu1061Gln | |
| NM_001382801.1:c.3163G>C | NP_001369730.1:p.Glu1055Gln | |
| NM_001382802.1:c.3109G>C | NP_001369731.1:p.Glu1037Gln | |
| NM_001382803.1:c.3118-187G>C | NP_001369732.1:n.3118-187G>C | |
| NM_001382804.1:c.2539G>C | NP_001369733.1:p.Glu847Gln | |
| NM_001382805.1:c.2416G>C | NP_001369734.1:p.Glu806Gln | |
| NM_001382806.1:c.2329G>C | NP_001369735.1:p.Glu777Gln | |
| NM_004448.4:c.3367G>C MANE Select | NP_004439.2:p.Glu1123Gln | |
| NR_110535.2:n.3605G>C |