HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67436702A>T , CM000678.2:g.67436702A>T | GRCh38 |
NC_000016.9:g.67470605A>T , CM000678.1:g.67470605A>T | GRCh37 |
NC_000016.8:g.66028106A>T | NCBI36 |
NG_011482.1:g.49485T>A | |
NG_016549.1:g.10570A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326152.6:c.917A>T MANE Select | ENSP00000316786.5:p.Gln306Leu | |
ENST00000326152.5:c.917A>T | ENSP00000316786.5:p.Gln306Leu | |
NM_000196.3:c.917A>T | NP_000187.3:p.Gln306Leu | |
NM_000196.4:c.917A>T MANE Select | NP_000187.3:p.Gln306Leu |