Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.103049296G>C , CM000675.2:g.103049296G>C | GRCh38 |
| NC_000013.10:g.103701646G>C , CM000675.1:g.103701646G>C | GRCh37 |
| NC_000013.9:g.102499647G>C | NCBI36 |
| NG_016648.1:g.22551C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245312.5:c.912C>G MANE Select | ENSP00000245312.3:p.Phe304Leu | |
| ENST00000245312.4:c.912C>G | ENSP00000245312.3:p.Phe304Leu | |
| NM_000452.2:c.912C>G | NP_000443.1:p.Phe304Leu | |
| NM_000452.3:c.912C>G MANE Select | NP_000443.2:p.Phe304Leu |