HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48974711C>A , CM000681.2:g.48974711C>A | GRCh38 |
NC_000019.9:g.49477968C>A , CM000681.1:g.49477968C>A | GRCh37 |
NC_000019.8:g.54169780C>A | NCBI36 |
NG_012923.1:g.23643G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323798.8:c.1331G>T MANE Select | ENSP00000317904.3:p.Cys444Phe | |
ENST00000263276.6:c.1139G>T | ENSP00000263276.6:p.Cys380Phe | |
ENST00000323798.7:c.1331G>T | ENSP00000317904.3:p.Cys444Phe | |
ENST00000472004.5:n.86G>T | ||
ENST00000496048.1:n.238G>T | ||
NM_001161587.1:c.1139G>T | NP_001155059.1:p.Cys380Phe | |
NM_002103.4:c.1331G>T | NP_002094.2:p.Cys444Phe | |
NR_027763.1:n.1390G>T | ||
NM_002103.5:c.1331G>T MANE Select | NP_002094.2:p.Cys444Phe | |
NM_001161587.2:c.1139G>T | NP_001155059.1:p.Cys380Phe | |
NR_027763.2:n.1346G>T |