HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48045796C= , CM000675.2:g.48045796C= | GRCh38 |
NC_000013.10:g.48619932C= , CM000675.1:g.48619932C= | GRCh37 |
NC_000013.9:g.47517933C= | NCBI36 |
NG_047021.1:g.13230C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258662.3:c.492C= MANE Select | ENSP00000258662.1:p.Leu164= | |
ENST00000258662.2:c.492C= | ENSP00000258662.1:p.Leu164= | |
NM_018283.2:c.492C= | NP_060753.1:p.Leu164= | |
NM_018283.3:c.492C= | NP_060753.1:p.Leu164= | |
NR_136687.1:n.672C= | ||
NR_136688.1:n.672C= | ||
NM_018283.4:c.492C= MANE Select | NP_060753.1:p.Leu164= | |
NR_136687.2:n.513C= | ||
NR_136688.2:n.513C= |