Linked Data
ClinVar Variation Id:
631085
ClinVar RCV Id:
RCV000777129
dbSNP Id:
rs1555739303
gnomAD v4:
19-1223117-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1223117G>T , CM000681.2:g.1223117G>T | GRCh38 |
| NC_000019.9:g.1223116G>T , CM000681.1:g.1223116G>T | GRCh37 |
| NC_000019.8:g.1174116G>T | NCBI36 |
| NG_007460.2:g.38711G>T , LRG_319:g.38711G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.1053G>T | ENSP00000490268.2:p.Glu351Asp | |
| ENST00000585748.3:c.681G>T | ENSP00000477641.2:p.Glu227Asp | |
| ENST00000585851.2:c.879G>T | ENSP00000467912.2:p.Glu293Asp | |
| ENST00000326873.12:c.1053G>T MANE Select | ENSP00000324856.6:p.Glu351Asp | |
| ENST00000652231.1:c.1053G>T | ENSP00000498804.1:p.Glu351Asp | |
| ENST00000326873.11:c.1053G>T | ENSP00000324856.6:p.Glu351Asp | |
| ENST00000586243.5:c.1053G>T | ENSP00000467240.2:p.Glu351Asp | |
| ENST00000589152.5:n.1751G>T | ||
| NM_000455.4:c.1053G>T , LRG_319t1:c.1053G>T | NP_000446.1:p.Glu351Asp | |
| XM_005259617.1:c.1053G>T | XP_005259674.1:p.Glu351Asp | |
| XM_005259618.3:c.1053G>T | XP_005259675.1:p.Glu351Asp | |
| XM_011528209.1:c.831G>T | XP_011526511.1:p.Glu277Asp | |
| XR_936204.1:n.1829G>T | ||
| XM_005259617.3:c.1053G>T | XP_005259674.1:p.Glu351Asp | |
| XM_011528209.2:c.831G>T | XP_011526511.1:p.Glu277Asp | |
| XR_001753738.2:n.1859G>T | ||
| XR_001753739.1:n.1859G>T | ||
| XR_001753740.2:n.1829G>T | ||
| NM_000455.5:c.1053G>T MANE Select | NP_000446.1:p.Glu351Asp |