Linked Data
ClinVar Variation Id:
1163745
ClinVar RCV Id:
RCV001509059
dbSNP Id:
rs1568665648
COSMIC:
COSM6290250
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047899G>A , CM000682.2:g.23047899G>A | GRCh38 |
| NC_000020.10:g.23028536G>A , CM000682.1:g.23028536G>A | GRCh37 |
| NC_000020.9:g.22976536G>A | NCBI36 |
| NG_012027.1:g.6766C>T , LRG_168:g.6766C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1606C>T MANE Select | ENSP00000366307.2:p.Leu536Phe | |
| ENST00000377103.2:c.1606C>T | ENSP00000366307.2:p.Leu536Phe | |
| NM_000361.2:c.1606C>T , LRG_168t1:c.1606C>T | NP_000352.1:p.Leu536Phe | |
| NM_000361.3:c.1606C>T MANE Select | NP_000352.1:p.Leu536Phe |