HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35285006T>A , CM000681.2:g.35285006T>A | GRCh38 |
NC_000019.9:g.35775909T>A , CM000681.1:g.35775909T>A | GRCh37 |
NC_000019.8:g.40467749T>A | NCBI36 |
NG_011563.1:g.7500T>A | |
NG_011563.2:g.7500T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222304.5:c.219T>A MANE Select | ENSP00000222304.2:p.Cys73Ter | |
ENST00000222304.3:c.219T>A | ENSP00000222304.2:p.Cys73Ter | |
ENST00000593580.1:n.2490T>A | ||
ENST00000598398.5:c.219T>A | ENSP00000471894.1:p.Cys73Ter | |
NM_021175.2:c.219T>A | NP_066998.1:p.Cys73Ter | |
NM_021175.3:c.219T>A | NP_066998.1:p.Cys73Ter | |
NM_021175.4:c.219T>A MANE Select | NP_066998.1:p.Cys73Ter |