HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10115568G>T , CM000681.2:g.10115568G>T | GRCh38 |
NC_000019.9:g.10226244G>T , CM000681.1:g.10226244G>T | GRCh37 |
NC_000019.8:g.10087244G>T | NCBI36 |
NG_047007.1:g.9048G>T | |
NG_051197.1:g.9357C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253108.9:c.858C>A MANE Select | ENSP00000253108.3:p.Ser286Arg | |
ENST00000253108.8:c.858C>A | ENSP00000253108.3:p.Ser286Arg | |
ENST00000589454.5:c.834C>A | ENSP00000466860.1:p.Ser278Arg | |
ENST00000590158.1:n.877C>A | ||
ENST00000593054.5:c.252C>A | ENSP00000467187.1:p.Ser84Arg | |
NM_003755.3:c.858C>A | NP_003746.2:p.Ser286Arg | |
NM_003755.4:c.858C>A | NP_003746.2:p.Ser286Arg | |
NM_003755.5:c.858C>A MANE Select | NP_003746.2:p.Ser286Arg |