HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48587564T>A , CM000681.2:g.48587564T>A | GRCh38 |
NC_000019.9:g.49090821T>A , CM000681.1:g.49090821T>A | GRCh37 |
NC_000019.8:g.53782633T>A | NCBI36 |
NG_029063.1:g.40393T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000201586.7:c.423+127T>A MANE Select | ENSP00000201586.2:n.423+127T>A | |
ENST00000201586.6:c.423+127T>A | ENSP00000201586.1:n.423+127T>A | |
ENST00000323090.4:c.378+127T>A | ENSP00000312880.3:n.378+127T>A | |
NM_004605.2:c.378+127T>A | NP_004596.2:n.378+127T>A | |
NM_177973.1:c.423+127T>A | NP_814444.1:n.423+127T>A | |
NM_177973.2:c.423+127T>A MANE Select | NP_814444.1:n.423+127T>A |