Linked Data
COSMIC:
COSM750139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954266G>T , CM000670.2:g.19954266G>T | GRCh38 |
| NC_000008.10:g.19811777G>T , CM000670.1:g.19811777G>T | GRCh37 |
| NC_000008.9:g.19856057G>T | NCBI36 |
| NG_008855.1:g.20196G>T | |
| NG_008855.2:g.57550G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.688G>T MANE Select | ENSP00000497642.1:p.Val230Phe | |
| ENST00000311322.8:c.688G>T | ENSP00000309757.6:p.Val230Phe | |
| NM_000237.2:c.688G>T | NP_000228.1:p.Val230Phe | |
| NM_000237.3:c.688G>T MANE Select | NP_000228.1:p.Val230Phe |