HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49496752G>A , CM000681.2:g.49496752G>A | GRCh38 |
NC_000019.9:g.50000009G>A , CM000681.1:g.50000009G>A | GRCh37 |
NC_000019.8:g.54691821G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270625.7:c.15+281G>A MANE Select | ENSP00000270625.1:n.15+281G>A | |
ENST00000270625.6:c.15+281G>A | ENSP00000270625.1:n.15+281G>A | |
ENST00000594493.1:c.-244+281G>A | ENSP00000471873.1:n.-244+281G>A | |
ENST00000596873.1:c.15+281G>A | ENSP00000470447.1:n.15+281G>A | |
ENST00000599167.5:n.102+281G>A | ||
ENST00000599561.1:c.15+281G>A | ENSP00000471874.1:n.15+281G>A | |
ENST00000600027.5:n.107+281G>A | ||
ENST00000601216.1:n.36+281G>A | ||
ENST00000601306.1:c.32+255G>A | ENSP00000470375.1:n.32+255G>A | |
ENST00000602252.5:n.41+281G>A | ||
NM_001015.4:c.15+281G>A | NP_001006.1:n.15+281G>A | |
NM_001015.5:c.15+281G>A MANE Select | NP_001006.1:n.15+281G>A |