Linked Data
ClinVar Variation Id:
932279
ClinVar RCV Id:
RCV001200016
dbSNP Id:
rs1874543567
COSMIC:
COSM1746684
ERepo:
CA16020973/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840487A>T , CM000674.2:g.102840487A>T | GRCh38 |
| NC_000012.11:g.103234265A>T , CM000674.1:g.103234265A>T | GRCh37 |
| NC_000012.10:g.101758395A>T | NCBI36 |
| NG_008690.1:g.82116T>A | |
| NG_008690.2:g.122924T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1228T>A MANE Select | ENSP00000448059.1:p.Phe410Ile | |
| ENST00000307000.7:c.1213T>A | ENSP00000303500.2:p.Phe405Ile | |
| ENST00000551114.2:n.890T>A | ||
| ENST00000553106.5:c.1228T>A | ENSP00000448059.1:p.Phe410Ile | |
| ENST00000635477.1:c.332T>A | ||
| ENST00000635528.1:n.743T>A | ||
| NM_000277.1:c.1228T>A | NP_000268.1:p.Phe410Ile | |
| XM_011538422.1:c.1171T>A | XP_011536724.1:p.Phe391Ile | |
| NM_000277.2:c.1228T>A | NP_000268.1:p.Phe410Ile | |
| NM_001354304.1:c.1228T>A | NP_001341233.1:p.Phe410Ile | |
| NM_000277.3:c.1228T>A MANE Select | NP_000268.1:p.Phe410Ile | |
| NM_001354304.2:c.1228T>A | NP_001341233.1:p.Phe410Ile |