HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52433806C>T , CM000674.2:g.52433806C>T | GRCh38 |
NC_000012.11:g.52827590C>T , CM000674.1:g.52827590C>T | GRCh37 |
NC_000012.10:g.51113857C>T | NCBI36 |
NG_008403.1:g.5521G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252245.6:c.498+1G>A MANE Select | ENSP00000252245.5:n.498+1G>A | |
ENST00000252245.5:c.498+1G>A | ENSP00000252245.5:n.498+1G>A | |
NM_004693.2:c.498+1G>A | NP_004684.2:n.498+1G>A | |
NM_004693.3:c.498+1G>A MANE Select | NP_004684.2:n.498+1G>A |