HGVS | Genome Assembly |
---|---|
NC_000018.10:g.60371622C>A , CM000680.2:g.60371622C>A | GRCh38 |
NC_000018.9:g.58038855C>A , CM000680.1:g.58038855C>A | GRCh37 |
NC_000018.8:g.56189835C>A | NCBI36 |
NG_016441.1:g.6147G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299766.5:c.728G>T MANE Select | ENSP00000299766.3:p.Gly243Val | |
ENST00000299766.4:c.728G>T | ENSP00000299766.3:p.Gly243Val | |
NM_005912.2:c.728G>T | NP_005903.2:p.Gly243Val | |
NM_005912.3:c.728G>T MANE Select | NP_005903.2:p.Gly243Val |