Linked Data
ClinVar Variation Id:
488454
ClinVar RCV Id:
RCV000578457
dbSNP Id:
rs1554902760
COSMIC:
COSM4011016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100238126C>A , CM000672.2:g.100238126C>A | GRCh38 |
| NC_000010.10:g.101997883C>A , CM000672.1:g.101997883C>A | GRCh37 |
| NC_000010.9:g.101987873C>A | NCBI36 |
| NG_041811.1:g.34556G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354105.10:c.1150G>T MANE Select | ENSP00000326411.6:p.Glu384Ter | |
| ENST00000354105.8:c.1150G>T | ENSP00000326411.6:p.Glu384Ter | |
| ENST00000370379.1:c.415G>T | ENSP00000359405.1:p.Glu139Ter | |
| ENST00000468709.5:n.1006G>T | ||
| ENST00000478047.1:n.1305G>T | ||
| ENST00000482452.5:n.833G>T | ||
| NM_001303404.1:c.1150G>T | NP_001290333.1:p.Glu384Ter | |
| NM_001303405.1:c.739G>T | NP_001290334.1:p.Glu247Ter | |
| NM_001303406.1:c.739G>T | NP_001290335.1:p.Glu247Ter | |
| NM_001303407.1:c.415G>T | NP_001290336.1:p.Glu139Ter | |
| NM_018294.5:c.1150G>T | NP_060764.3:p.Glu384Ter | |
| NM_018294.6:c.1150G>T MANE Select | NP_060764.3:p.Glu384Ter | |
| NM_001303404.2:c.1150G>T | NP_001290333.1:p.Glu384Ter | |
| NM_001303405.2:c.739G>T | NP_001290334.1:p.Glu247Ter | |
| NM_001303406.2:c.739G>T | NP_001290335.1:p.Glu247Ter | |
| NM_001303407.2:c.415G>T | NP_001290336.1:p.Glu139Ter |