Linked Data
COSMIC:
COSM4847439
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15930549G>C , CM000663.2:g.15930549G>C | GRCh38 |
| NC_000001.10:g.16257044G>C , CM000663.1:g.16257044G>C | GRCh37 |
| NC_000001.9:g.16129631G>C | NCBI36 |
| NG_050663.1:g.87686G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438066.2:c.*5160G>C | ENSP00000388021.2:n.*5160G>C | |
| ENST00000375759.8:c.4309G>C MANE Select | ENSP00000364912.3:p.Asp1437His | |
| ENST00000375759.7:c.4309G>C | ENSP00000364912.3:p.Asp1437His | |
| NM_015001.2:c.4309G>C | NP_055816.2:p.Asp1437His | |
| NM_015001.3:c.4309G>C MANE Select | NP_055816.2:p.Asp1437His |