HGVS | Genome Assembly |
---|---|
NC_000011.10:g.48306242T>C , CM000673.2:g.48306242T>C | GRCh38 |
NC_000011.9:g.48327794T>C , CM000673.1:g.48327794T>C | GRCh37 |
NC_000011.8:g.48284370T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319988.1:c.20T>C MANE Select | ENSP00000321447.1:p.Val7Ala | |
NM_001004725.1:c.20T>C MANE Select | NP_001004725.1:p.Val7Ala |