HGVS | Genome Assembly |
---|---|
NC_000018.10:g.60371623C>T , CM000680.2:g.60371623C>T | GRCh38 |
NC_000018.9:g.58038856C>T , CM000680.1:g.58038856C>T | GRCh37 |
NC_000018.8:g.56189836C>T | NCBI36 |
NG_016441.1:g.6146G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299766.5:c.727G>A MANE Select | ENSP00000299766.3:p.Gly243Arg | |
ENST00000299766.4:c.727G>A | ENSP00000299766.3:p.Gly243Arg | |
NM_005912.2:c.727G>A | NP_005903.2:p.Gly243Arg | |
NM_005912.3:c.727G>A MANE Select | NP_005903.2:p.Gly243Arg |