HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9126474G>T , CM000681.2:g.9126474G>T | GRCh38 |
NC_000019.9:g.9237150G>T , CM000681.1:g.9237150G>T | GRCh37 |
NC_000019.8:g.9098150G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305444.2:c.477C>A MANE Select | ENSP00000302867.2:p.His159Gln | |
NM_001001958.1:c.477C>A MANE Select | NP_001001958.1:p.His159Gln |