HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48974710G>T , CM000681.2:g.48974710G>T | GRCh38 |
NC_000019.9:g.49477967G>T , CM000681.1:g.49477967G>T | GRCh37 |
NC_000019.8:g.54169779G>T | NCBI36 |
NG_012923.1:g.23644C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323798.8:c.1332C>A MANE Select | ENSP00000317904.3:p.Cys444Ter | |
ENST00000263276.6:c.1140C>A | ENSP00000263276.6:p.Cys380Ter | |
ENST00000323798.7:c.1332C>A | ENSP00000317904.3:p.Cys444Ter | |
ENST00000472004.5:n.87C>A | ||
ENST00000496048.1:n.239C>A | ||
NM_001161587.1:c.1140C>A | NP_001155059.1:p.Cys380Ter | |
NM_002103.4:c.1332C>A | NP_002094.2:p.Cys444Ter | |
NR_027763.1:n.1391C>A | ||
NM_002103.5:c.1332C>A MANE Select | NP_002094.2:p.Cys444Ter | |
NM_001161587.2:c.1140C>A | NP_001155059.1:p.Cys380Ter | |
NR_027763.2:n.1347C>A |