HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50910922G>T , CM000685.2:g.50910922G>T | GRCh38 |
NC_000023.10:g.50653922G>T , CM000685.1:g.50653922G>T | GRCh37 |
NC_000023.9:g.50670662G>T | NCBI36 |
NG_012894.1:g.5139G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.139G>T MANE Select | ENSP00000252677.3:p.Glu47Ter | |
ENST00000252677.3:c.139G>T | ENSP00000252677.3:p.Glu47Ter | |
NM_005448.2:c.139G>T MANE Select | NP_005439.2:p.Glu47Ter |