HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6685124G= , CM000681.2:g.6685124G= | GRCh38 |
NC_000019.9:g.6685135G= , CM000681.1:g.6685135G= | GRCh37 |
NC_000019.8:g.6636135G= | NCBI36 |
NG_009557.1:g.40528C= , LRG_27:g.40528C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695651.1:n.2181C= | ||
ENST00000695653.1:c.1742C= | ENSP00000512084.1:p.Ala581= | |
ENST00000695654.1:c.2858C= | ENSP00000512085.1:p.Ala953= | |
ENST00000695690.1:n.24C= | ||
ENST00000695691.1:n.24C= | ||
ENST00000245907.11:c.3833C= MANE Select | ENSP00000245907.4:p.Ala1278= | |
ENST00000245907.10:c.3833C= | ENSP00000245907.4:p.Ala1278= | |
ENST00000596238.1:n.276C= | ||
ENST00000601008.1:c.241+1622C= | ENSP00000471384.1:n.241+1622C= | |
NM_000064.3:c.3833C= | NP_000055.2:p.Ala1278= | |
NM_000064.4:c.3833C= MANE Select | NP_000055.2:p.Ala1278= |