Linked Data
COSMIC:
COSM5503034
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978337G>A , CM000667.2:g.149978337G>A | GRCh38 |
| NC_000005.9:g.149357900G>A , CM000667.1:g.149357900G>A | GRCh37 |
| NC_000005.8:g.149338093G>A | NCBI36 |
| NG_007147.2:g.19455G>A , LRG_684:g.19455G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.917G>A | ||
| ENST00000286298.5:c.685G>A MANE Select | ENSP00000286298.4:p.Ala229Thr | |
| ENST00000286298.4:c.685G>A | ENSP00000286298.4:p.Ala229Thr | |
| ENST00000503336.1:c.358G>A | ENSP00000426053.1:p.Ala120Thr | |
| NM_000112.3:c.685G>A , LRG_684t1:c.685G>A | NP_000103.2:p.Ala229Thr | |
| XM_017009191.2:c.685G>A | XP_016864680.1:p.Ala229Thr | |
| NM_000112.4:c.685G>A MANE Select | NP_000103.2:p.Ala229Thr |