Linked Data
COSMIC:
COSM4788787
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985916G>A , CM000678.2:g.1985916G>A | GRCh38 |
| NC_000016.9:g.2035917G>A , CM000678.1:g.2035917G>A | GRCh37 |
| NC_000016.8:g.1975918G>A | NCBI36 |
| NG_016288.1:g.6768G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.281G>A | ENSP00000455885.1:p.Trp94Ter | |
| ENST00000248114.7:c.506G>A MANE Select | ENSP00000248114.6:p.Trp169Ter | |
| ENST00000248114.6:c.506G>A | ENSP00000248114.6:p.Trp169Ter | |
| ENST00000565658.1:n.663G>A | ||
| ENST00000567719.1:c.281G>A | ENSP00000455885.1:p.Trp94Ter | |
| ENST00000569451.1:c.309G>A | ENSP00000456432.1:p.Val103= | |
| NM_005262.2:c.506G>A | NP_005253.3:p.Trp169Ter | |
| NM_005262.3:c.506G>A MANE Select | NP_005253.3:p.Trp169Ter |