HGVS | Genome Assembly |
---|---|
NC_000008.11:g.27882900C>T , CM000670.2:g.27882900C>T | GRCh38 |
NC_000008.10:g.27740417C>T , CM000670.1:g.27740417C>T | GRCh37 |
NC_000008.9:g.27796336C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000354914.8:c.1154-3134G>A MANE Select | ENSP00000346990.3:n.1154-3134G>A | |
ENST00000354914.7:c.1154-3134G>A | ENSP00000346990.3:n.1154-3134G>A | |
ENST00000380385.6:c.479-3134G>A | ENSP00000369746.2:n.479-3134G>A | |
NM_173833.5:c.1154-3134G>A | NP_776194.2:n.1154-3134G>A | |
NM_173833.6:c.1154-3134G>A MANE Select | NP_776194.2:n.1154-3134G>A |