Linked Data
dbSNP Id:
rs765763193
gnomAD v3:
3-93896649-C-A
gnomAD v4:
3-93896649-C-A
COSMIC:
COSM1048921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93896649C>A , CM000665.2:g.93896649C>A | GRCh38 |
| NC_000003.11:g.93615493C>A , CM000665.1:g.93615493C>A | GRCh37 |
| NC_000003.10:g.95098183C>A | NCBI36 |
| NG_009813.1:g.82442G>T , LRG_572:g.82442G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.892G>T | ENSP00000330021.7:p.Glu298Ter | |
| ENST00000394236.9:c.892G>T MANE Select | ENSP00000377783.3:p.Glu298Ter | |
| ENST00000407433.6:c.847G>T | ENSP00000385794.2:p.Glu283Ter | |
| ENST00000647936.1:c.892G>T | ENSP00000496822.1:p.Glu298Ter | |
| ENST00000648381.1:n.1060G>T | ||
| ENST00000648853.1:c.850G>T | ENSP00000497262.1:p.Glu284Ter | |
| ENST00000649103.1:c.991G>T | ENSP00000497962.1:n.991G>T | |
| ENST00000650591.1:c.988G>T | ENSP00000497376.1:p.Glu330Ter | |
| ENST00000394236.7:c.892G>T | ENSP00000377783.3:p.Glu298Ter | |
| ENST00000407433.5:c.499G>T | ENSP00000385794.1:p.Glu167Ter | |
| NM_000313.3:c.892G>T , LRG_572t1:c.892G>T | NP_000304.2:p.Glu298Ter | |
| NM_001314077.1:c.988G>T , LRG_572t2:c.988G>T | NP_001301006.1:p.Glu330Ter | |
| NM_000313.4:c.892G>T MANE Select | NP_000304.2:p.Glu298Ter | |
| NM_001314077.2:c.988G>T | NP_001301006.1:p.Glu330Ter |