Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103458340G>C , CM000672.2:g.103458340G>C | GRCh38 |
| NC_000010.10:g.105218097G>C , CM000672.1:g.105218097G>C | GRCh37 |
| NC_000010.9:g.105208087G>C | NCBI36 |
| NG_016855.1:g.5552C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329905.6:c.412C>G MANE Select | ENSP00000329926.6:p.Leu138Val | |
| ENST00000329905.5:c.412C>G | ENSP00000329926.5:p.Leu138Val | |
| NM_001001412.3:c.412C>G | NP_001001412.3:p.Leu138Val | |
| NM_001001412.4:c.412C>G MANE Select | NP_001001412.3:p.Leu138Val |