HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48974717G>T , CM000681.2:g.48974717G>T | GRCh38 |
NC_000019.9:g.49477974G>T , CM000681.1:g.49477974G>T | GRCh37 |
NC_000019.8:g.54169786G>T | NCBI36 |
NG_012923.1:g.23637C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323798.8:c.1325C>A MANE Select | ENSP00000317904.3:p.Pro442His | |
ENST00000263276.6:c.1133C>A | ENSP00000263276.6:p.Pro378His | |
ENST00000323798.7:c.1325C>A | ENSP00000317904.3:p.Pro442His | |
ENST00000472004.5:n.80C>A | ||
ENST00000496048.1:n.232C>A | ||
NM_001161587.1:c.1133C>A | NP_001155059.1:p.Pro378His | |
NM_002103.4:c.1325C>A | NP_002094.2:p.Pro442His | |
NR_027763.1:n.1384C>A | ||
NM_002103.5:c.1325C>A MANE Select | NP_002094.2:p.Pro442His | |
NM_001161587.2:c.1133C>A | NP_001155059.1:p.Pro378His | |
NR_027763.2:n.1340C>A |