Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485192A>T , CM000668.2:g.143485192A>T | GRCh38 |
| NC_000006.11:g.143806329A>T , CM000668.1:g.143806329A>T | GRCh37 |
| NC_000006.10:g.143848022A>T | NCBI36 |
| NG_008459.1:g.39412A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.982A>T MANE Select | ENSP00000356563.4:p.Ile328Leu | |
| ENST00000367591.4:c.982A>T | ENSP00000356563.4:p.Ile328Leu | |
| ENST00000585848.1:n.121A>T | ||
| NM_003630.2:c.982A>T | NP_003621.1:p.Ile328Leu | |
| NM_003630.3:c.982A>T MANE Select | NP_003621.1:p.Ile328Leu |