HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73558239G>A , CM000677.2:g.73558239G>A | GRCh38 |
NC_000015.9:g.73850580G>A , CM000677.1:g.73850580G>A | GRCh37 |
NC_000015.8:g.71637633G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331090.11:c.637-1513G>A MANE Select | ENSP00000328423.6:n.637-1513G>A | |
ENST00000331090.10:c.637-1513G>A | ENSP00000328423.6:n.637-1513G>A | |
ENST00000560581.1:c.553-1513G>A | ENSP00000452908.1:n.553-1513G>A | |
NM_001042367.1:c.637-1513G>A | NP_001035826.1:n.637-1513G>A | |
NM_001348772.1:c.553-1513G>A | NP_001335701.1:n.553-1513G>A | |
NM_001042367.2:c.637-1513G>A MANE Select | NP_001035826.1:n.637-1513G>A | |
NM_001348772.2:c.553-1513G>A | NP_001335701.1:n.553-1513G>A |