HGVS | Genome Assembly |
---|---|
NC_000009.12:g.5465130C>A , CM000671.2:g.5465130C>A | GRCh38 |
NC_000009.11:g.5465130C>A , CM000671.1:g.5465130C>A | GRCh37 |
NC_000009.10:g.5455130C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381577.4:c.683-369C>A MANE Select | ENSP00000370989.3:n.683-369C>A | |
ENST00000381573.8:c.341-369C>A | ENSP00000370985.4:n.341-369C>A | |
ENST00000381577.3:c.683-369C>A | ENSP00000370989.3:n.683-369C>A | |
ENST00000492923.1:n.188-369C>A | ||
ENST00000498261.1:n.577-369C>A | ||
NM_001267706.1:c.341-369C>A | NP_001254635.1:n.341-369C>A | |
NM_014143.3:c.683-369C>A | NP_054862.1:n.683-369C>A | |
NR_052005.1:n.685-369C>A | ||
XM_006716759.2:c.*40-369C>A | XP_006716822.1:n.*40-369C>A | |
NM_014143.4:c.683-369C>A MANE Select | NP_054862.1:n.683-369C>A | |
NR_052005.2:n.646-369C>A | ||
NM_001267706.2:c.341-369C>A | NP_001254635.1:n.341-369C>A |