HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154187961G>T , CM000685.2:g.154187961G>T | GRCh38 |
NC_000023.10:g.153453450G>T , CM000685.1:g.153453450G>T | GRCh37 |
NG_011606.1:g.10366G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000595290.6:c.304G>T MANE Select | ENSP00000472316.1:p.Glu102Ter | |
ENST00000595290.5:c.304G>T | ENSP00000472316.1:p.Glu102Ter | |
ENST00000595330.1:n.314G>T | ||
NM_000513.2:c.304G>T MANE Select | NP_000504.1:p.Glu102Ter |