Linked Data
COSMIC:
COSM1190154
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154111C>A , CM000681.2:g.55154111C>A | GRCh38 |
| NC_000019.9:g.55665479C>A , CM000681.1:g.55665479C>A | GRCh37 |
| NC_000019.8:g.60357291C>A | NCBI36 |
| NG_007866.2:g.8622G>T , LRG_432:g.8622G>T | |
| NG_011829.2:g.128G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.468G>T MANE Select | ENSP00000341838.5:p.Gln156His | |
| ENST00000665070.1:c.501G>T | ENSP00000499482.1:p.Gln167His | |
| ENST00000344887.9:c.468G>T | ENSP00000341838.5:p.Gln156His | |
| ENST00000585806.5:n.467G>T | ||
| ENST00000586669.5:n.476G>T | ||
| ENST00000588882.1:c.393G>T | ENSP00000466729.1:p.Gln131His | |
| ENST00000589864.1:n.296G>T | ||
| NM_000363.4:c.468G>T , LRG_432t1:c.468G>T | NP_000354.4:p.Gln156His | |
| NM_000363.5:c.468G>T MANE Select | NP_000354.4:p.Gln156His |