HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18785717C>A , CM000681.2:g.18785717C>A | GRCh38 |
NC_000019.9:g.18896527C>A , CM000681.1:g.18896527C>A | GRCh37 |
NC_000019.8:g.18757527C>A | NCBI36 |
NG_007070.1:g.10588G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222271.7:c.1624G>T MANE Select | ENSP00000222271.2:p.Glu542Ter | |
ENST00000222271.6:c.1624G>T | ENSP00000222271.2:p.Glu542Ter | |
ENST00000425807.1:c.1465G>T | ENSP00000403792.1:p.Glu489Ter | |
ENST00000542601.6:c.1525G>T | ENSP00000439156.2:p.Glu509Ter | |
NM_000095.2:c.1624G>T | NP_000086.2:p.Glu542Ter | |
NM_000095.3:c.1624G>T MANE Select | NP_000086.2:p.Glu542Ter |