HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18785970G= , CM000681.2:g.18785970G= | GRCh38 |
NC_000019.9:g.18896780G= , CM000681.1:g.18896780G= | GRCh37 |
NC_000019.8:g.18757780G= | NCBI36 |
NG_007070.1:g.10335C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1484C= MANE Select | ENSP00000222271.2:p.Ala495= | |
ENST00000222271.6:c.1484C= | ENSP00000222271.2:p.Ala495= | |
ENST00000425807.1:c.1325C= | ENSP00000403792.1:p.Ala442= | |
ENST00000542601.6:c.1385C= | ENSP00000439156.2:p.Ala462= | |
NM_000095.2:c.1484C= | NP_000086.2:p.Ala495= | |
NM_000095.3:c.1484C= MANE Select | NP_000086.2:p.Ala495= |