HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80273792G>T , CM000672.2:g.80273792G>T | GRCh38 |
NC_000010.10:g.82033548G>T , CM000672.1:g.82033548G>T | GRCh37 |
NC_000010.9:g.82023528G>T | NCBI36 |
NG_008083.1:g.20887C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372213.8:c.1177C>A MANE Select | ENSP00000361287.3:p.Leu393Ile | |
ENST00000372213.7:c.1177C>A | ENSP00000361287.3:p.Leu393Ile | |
ENST00000480845.1:n.409C>A | ||
ENST00000485270.5:n.689C>A | ||
NM_000429.2:c.1177C>A | NP_000420.1:p.Leu393Ile | |
XM_005269842.3:c.1177C>A | XP_005269899.1:p.Leu393Ile | |
XM_005269843.3:c.1054C>A | XP_005269900.1:p.Leu352Ile | |
NM_000429.3:c.1177C>A MANE Select | NP_000420.1:p.Leu393Ile |