HGVS | Genome Assembly |
---|---|
NC_000016.10:g.177079C>A , CM000678.2:g.177079C>A | GRCh38 |
NC_000016.9:g.227078C>A , CM000678.1:g.227078C>A | GRCh37 |
NC_000016.8:g.167078C>A | NCBI36 |
NG_000006.1:g.37942C>A | |
NG_059186.1:g.5429C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320868.9:c.246C>A MANE Select | ENSP00000322421.5:p.Ser82= | |
ENST00000397797.1:c.150C>A | ENSP00000380899.1:p.Ser50= | |
ENST00000472694.1:n.382C>A | ||
ENST00000487791.1:n.215C>A | ||
NM_000558.4:c.246C>A | NP_000549.1:p.Ser82= | |
NM_000558.5:c.246C>A MANE Select | NP_000549.1:p.Ser82= |