HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713289C>T , CM000681.2:g.6713289C>T | GRCh38 |
NC_000019.9:g.6713300C>T , CM000681.1:g.6713300C>T | GRCh37 |
NC_000019.8:g.6664300C>T | NCBI36 |
NG_009557.1:g.12363G>A , LRG_27:g.12363G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.780G>A | ENSP00000512083.1:p.Val260= | |
ENST00000695654.1:c.27G>A | ENSP00000512085.1:p.Val9= | |
ENST00000695692.1:n.227G>A | ||
ENST00000245907.11:c.903G>A MANE Select | ENSP00000245907.4:p.Val301= | |
ENST00000245907.10:c.903G>A | ENSP00000245907.4:p.Val301= | |
ENST00000594270.5:n.27G>A | ||
ENST00000595577.1:n.407G>A | ||
ENST00000597442.5:n.153G>A | ||
NM_000064.3:c.903G>A | NP_000055.2:p.Val301= | |
NM_000064.4:c.903G>A MANE Select | NP_000055.2:p.Val301= |