HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9126717C>T , CM000681.2:g.9126717C>T | GRCh38 |
NC_000019.9:g.9237393C>T , CM000681.1:g.9237393C>T | GRCh37 |
NC_000019.8:g.9098393C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305444.2:c.234G>A MANE Select | ENSP00000302867.2:p.Met78Ile | |
NM_001001958.1:c.234G>A MANE Select | NP_001001958.1:p.Met78Ile |