Linked Data
dbSNP Id:
rs1389271470
gnomAD v2:
1-19404536-G-T
gnomAD v3:
1-19078042-G-T
gnomAD v4:
1-19078042-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19078042G>T , CM000663.2:g.19078042G>T | GRCh38 |
| NC_000001.10:g.19404536G>T , CM000663.1:g.19404536G>T | GRCh37 |
| NC_000001.9:g.19277123G>T | NCBI36 |
| NG_027669.1:g.137211C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375254.8:c.15258C>A MANE Select | ENSP00000364403.3:p.Asp5086Glu | |
| ENST00000375224.1:c.2379C>A | ENSP00000364372.1:p.Asp793Glu | |
| ENST00000375225.7:c.483C>A | ENSP00000364373.3:p.Asp161Glu | |
| ENST00000375254.7:c.15258C>A | ENSP00000364403.3:p.Asp5086Glu | |
| ENST00000459947.5:n.3265C>A | ||
| NM_020765.2:c.15258C>A | NP_065816.2:p.Asp5086Glu | |
| XM_011541108.1:c.15411C>A | XP_011539410.1:p.Asp5137Glu | |
| XM_011541109.1:c.15408C>A | XP_011539411.1:p.Asp5136Glu | |
| XM_011541110.1:c.15408C>A | XP_011539412.1:p.Asp5136Glu | |
| XM_011541111.1:c.15408C>A | XP_011539413.1:p.Asp5136Glu | |
| XM_011541112.1:c.15396C>A | XP_011539414.1:p.Asp5132Glu | |
| XM_011541113.1:c.15393C>A | XP_011539415.1:p.Asp5131Glu | |
| XM_011541114.1:c.15393C>A | XP_011539416.1:p.Asp5131Glu | |
| XM_011541115.1:c.15387C>A | XP_011539417.1:p.Asp5129Glu | |
| XM_011541116.1:c.15378C>A | XP_011539418.1:p.Asp5126Glu | |
| XM_011541117.1:c.15327C>A | XP_011539419.1:p.Asp5109Glu | |
| XM_011541118.1:c.15324C>A | XP_011539420.1:p.Asp5108Glu | |
| XM_011541119.1:c.15291C>A | XP_011539421.1:p.Asp5097Glu | |
| XM_011541120.1:c.15288C>A | XP_011539422.1:p.Asp5096Glu | |
| XM_011541121.1:c.15255C>A | XP_011539423.1:p.Asp5085Glu | |
| XM_011541108.3:c.15525C>A | XP_011539410.2:p.Asp5175Glu | |
| XM_011541109.3:c.15522C>A | XP_011539411.2:p.Asp5174Glu | |
| XM_011541110.3:c.15522C>A | XP_011539412.2:p.Asp5174Glu | |
| XM_011541111.3:c.15522C>A | XP_011539413.2:p.Asp5174Glu | |
| XM_011541112.3:c.15510C>A | XP_011539414.2:p.Asp5170Glu | |
| XM_011541113.3:c.15507C>A | XP_011539415.2:p.Asp5169Glu | |
| XM_011541114.3:c.15507C>A | XP_011539416.2:p.Asp5169Glu | |
| XM_011541115.3:c.15501C>A | XP_011539417.2:p.Asp5167Glu | |
| XM_011541116.3:c.15492C>A | XP_011539418.2:p.Asp5164Glu | |
| XM_011541117.3:c.15441C>A | XP_011539419.2:p.Asp5147Glu | |
| XM_011541118.3:c.15438C>A | XP_011539420.2:p.Asp5146Glu | |
| XM_011541119.3:c.15405C>A | XP_011539421.2:p.Asp5135Glu | |
| XM_011541120.3:c.15402C>A | XP_011539422.2:p.Asp5134Glu | |
| XM_011541121.3:c.15369C>A | XP_011539423.2:p.Asp5123Glu | |
| XM_017000822.2:c.15504C>A | XP_016856311.2:p.Asp5168Glu | |
| XM_017000823.2:c.15477C>A | XP_016856312.2:p.Asp5159Glu | |
| XM_017000824.2:c.15423C>A | XP_016856313.2:p.Asp5141Glu | |
| XM_017000825.2:c.15408C>A | XP_016856314.2:p.Asp5136Glu | |
| XM_017000826.2:c.15405C>A | XP_016856315.2:p.Asp5135Glu | |
| XM_017000827.2:c.15390C>A | XP_016856316.2:p.Asp5130Glu | |
| XM_017000828.2:c.15366C>A | XP_016856317.2:p.Asp5122Glu | |
| XM_017000829.2:c.15318C>A | XP_016856318.2:p.Asp5106Glu | |
| XM_017000830.2:c.15267C>A | XP_016856319.2:p.Asp5089Glu | |
| NM_020765.3:c.15258C>A MANE Select | NP_065816.2:p.Asp5086Glu |