Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33944795C>T , CM000667.2:g.33944795C>T | GRCh38 |
| NC_000005.9:g.33944900C>T , CM000667.1:g.33944900C>T | GRCh37 |
| NC_000005.8:g.33980657C>T | NCBI36 |
| NG_011691.2:g.44881G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1446G>A MANE Select | ENSP00000296589.4:p.Met482Ile | |
| ENST00000296589.8:c.1446G>A | ENSP00000296589.4:p.Met482Ile | |
| NM_016180.4:c.1446G>A | NP_057264.3:p.Met482Ile | |
| XM_011514051.1:c.1044G>A | XP_011512353.1:p.Met348Ile | |
| NM_016180.5:c.1446G>A MANE Select | NP_057264.4:p.Met482Ile |