HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312692C>A , CM000673.2:g.118312692C>A | GRCh38 |
NC_000011.9:g.118183407C>A , CM000673.1:g.118183407C>A | GRCh37 |
NC_000011.8:g.117688617C>A | NCBI36 |
NG_007383.1:g.13113C>A , LRG_38:g.13113C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361763.9:c.178C>A MANE Select | ENSP00000354566.4:p.Gln60Lys | |
ENST00000361763.8:c.178C>A | ENSP00000354566.4:p.Gln60Lys | |
ENST00000526146.5:n.724C>A | ||
ENST00000528435.5:n.731C>A | ||
ENST00000528600.1:c.160C>A | ENSP00000433975.1:p.Gln54Lys | |
ENST00000529713.5:n.284C>A | ||
ENST00000531913.1:n.549C>A | ||
NM_000733.3:c.178C>A , LRG_38t1:c.178C>A | NP_000724.1:p.Gln60Lys | |
NM_000733.4:c.178C>A MANE Select | NP_000724.1:p.Gln60Lys |