HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6710853G= , CM000681.2:g.6710853G= | GRCh38 |
NC_000019.9:g.6710864G= , CM000681.1:g.6710864G= | GRCh37 |
NC_000019.8:g.6661864G= | NCBI36 |
NG_009557.1:g.14799C= , LRG_27:g.14799C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695652.1:c.1357-8C= | ENSP00000512083.1:n.1357-8C= | |
ENST00000695654.1:c.604-8C= | ENSP00000512085.1:n.604-8C= | |
ENST00000695655.1:c.377C= | ENSP00000512086.1:p.Ser126= | |
ENST00000695692.1:n.844-8C= | ||
ENST00000245907.11:c.1480-8C= MANE Select | ENSP00000245907.4:n.1480-8C= | |
ENST00000245907.10:c.1480-8C= | ENSP00000245907.4:n.1480-8C= | |
ENST00000600763.1:n.105C= | ||
NM_000064.3:c.1480-8C= | NP_000055.2:n.1480-8C= | |
NM_000064.4:c.1480-8C= MANE Select | NP_000055.2:n.1480-8C= |