HGVS | Genome Assembly |
---|---|
NC_000016.10:g.177132A= , CM000678.2:g.177132A= | GRCh38 |
NC_000016.9:g.227131A= , CM000678.1:g.227131A= | GRCh37 |
NC_000016.8:g.167131A= | NCBI36 |
NG_000006.1:g.37995A= | |
NG_059186.1:g.5482A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320868.9:c.299A= MANE Select | ENSP00000322421.5:p.Lys100= | |
ENST00000397797.1:c.203A= | ENSP00000380899.1:p.Lys68= | |
ENST00000472694.1:n.435A= | ||
ENST00000487791.1:n.268A= | ||
NM_000558.4:c.299A= | NP_000549.1:p.Lys100= | |
NM_000558.5:c.299A= MANE Select | NP_000549.1:p.Lys100= |