Linked Data
COSMIC:
COSM984394
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455353G>C , CM000679.2:g.7455353G>C | GRCh38 |
| NC_000017.10:g.7358672G>C , CM000679.1:g.7358672G>C | GRCh37 |
| NC_000017.9:g.7299396G>C | NCBI36 |
| NG_008026.1:g.15267G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1114G>C MANE Select | ENSP00000304290.2:p.Glu372Gln | |
| ENST00000306071.6:c.1114G>C | ENSP00000304290.2:p.Glu372Gln | |
| ENST00000536404.6:c.898G>C | ENSP00000439209.2:p.Glu300Gln | |
| ENST00000570557.5:c.777G>C | ||
| ENST00000573209.1:n.2058G>C | ||
| ENST00000576360.1:c.751G>C | ENSP00000459092.1:p.Glu251Gln | |
| NM_000747.2:c.1114G>C | NP_000738.2:p.Glu372Gln | |
| NM_000747.3:c.1114G>C MANE Select | NP_000738.2:p.Glu372Gln |