Linked Data
ClinVar Variation Id:
1482183
ClinVar RCV Id:
RCV001994456
dbSNP Id:
rs2137665407
COSMIC:
COSM1684712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398479G>T , CM000675.2:g.32398479G>T | GRCh38 |
| NC_000013.10:g.32972616G>T , CM000675.1:g.32972616G>T | GRCh37 |
| NC_000013.9:g.31870616G>T | NCBI36 |
| NG_012772.3:g.88000G>T , LRG_293:g.88000G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*489G>T | ENSP00000434898.2:n.*489G>T | |
| ENST00000528762.2:c.*1333G>T | ENSP00000433168.2:n.*1333G>T | |
| ENST00000530893.7:c.9597G>T | ENSP00000499438.2:p.Met3199Ile | |
| ENST00000665585.2:c.*1528G>T | ENSP00000499570.2:n.*1528G>T | |
| ENST00000700202.2:c.9915G>T | ENSP00000514856.2:p.Met3305Ile | |
| ENST00000700202.1:c.2382G>T | ENSP00000514856.1:p.Met794Ile | |
| ENST00000700203.1:n.2093G>T | ||
| ENST00000380152.8:c.9966G>T MANE Select | ENSP00000369497.3:p.Met3322Ile | |
| ENST00000544455.6:c.9966G>T | ENSP00000439902.1:p.Met3322Ile | |
| ENST00000614259.2:c.9974G>T | ENSP00000506251.1:n.9974G>T | |
| ENST00000680887.1:c.9966G>T | ENSP00000505508.1:p.Met3322Ile | |
| ENST00000380152.7:c.9966G>T | ENSP00000369497.3:p.Met3322Ile | |
| ENST00000544455.5:c.9966G>T | ENSP00000439902.1:p.Met3322Ile | |
| NM_000059.3:c.9966G>T , LRG_293t1:c.9966G>T | NP_000050.2:p.Met3322Ile | |
| XM_011535203.1:c.9966G>T | XP_011533505.1:p.Met3322Ile | |
| XM_011535204.1:c.9870G>T | XP_011533506.1:p.Met3290Ile | |
| NM_000059.4:c.9966G>T MANE Select | NP_000050.3:p.Met3322Ile |