Linked Data
COSMIC:
COSM4557354
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445681G>A , CM000663.2:g.15445681G>A | GRCh38 |
| NC_000001.10:g.15772176G>A , CM000663.1:g.15772176G>A | GRCh37 |
| NC_000001.9:g.15644763G>A | NCBI36 |
| NG_009253.1:g.12239G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.724G>A MANE Select | ENSP00000365116.4:p.Gly242Ser | |
| ENST00000375943.6:c.*178G>A | ENSP00000365110.2:n.*178G>A | |
| ENST00000375949.4:c.724G>A | ENSP00000365116.4:p.Gly242Ser | |
| ENST00000483406.1:n.488G>A | ||
| NM_007272.2:c.724G>A | NP_009203.2:p.Gly242Ser | |
| XM_011540550.1:c.578G>A | XP_011538852.1:p.Gly193Glu | |
| NM_007272.3:c.724G>A MANE Select | NP_009203.2:p.Gly242Ser |