Linked Data
ClinVar Variation Id:
126831
ClinVar RCV Id:
RCV000114723
dbSNP Id:
rs587778845
COSMIC:
COSM911
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48373443T>A , CM000675.2:g.48373443T>A | GRCh38 |
| NC_000013.10:g.48947579T>A , CM000675.1:g.48947579T>A | GRCh37 |
| NC_000013.9:g.47845580T>A | NCBI36 |
| NG_009009.1:g.74697T>A , LRG_517:g.74697T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1166T>A MANE Select | ENSP00000267163.4:p.Leu389Ter | |
| ENST00000650461.1:c.1166T>A | ENSP00000497193.1:p.Leu389Ter | |
| ENST00000267163.4:c.1166T>A | ENSP00000267163.4:p.Leu389Ter | |
| NM_000321.2:c.1166T>A , LRG_517t1:c.1166T>A | NP_000312.2:p.Leu389Ter | |
| XM_011535171.1:c.905T>A | XP_011533473.1:p.Leu302Ter | |
| XM_011535171.2:c.905T>A | XP_011533473.1:p.Leu302Ter | |
| XR_002957522.1:n.121+717A>T | ||
| NM_000321.3:c.1166T>A MANE Select | NP_000312.2:p.Leu389Ter |