HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67586457G>A , CM000673.2:g.67586457G>A | GRCh38 |
NC_000011.9:g.67353928G>A , CM000673.1:g.67353928G>A | GRCh37 |
NC_000011.8:g.67110504G>A | NCBI36 |
NG_012075.1:g.7863G>A , LRG_723:g.7863G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.405G>A | ENSP00000381604.1:p.Leu135= | |
ENST00000398606.10:c.513G>A MANE Select | ENSP00000381607.3:p.Leu171= | |
ENST00000646888.1:c.*229G>A | ENSP00000494477.1:n.*229G>A | |
ENST00000398603.5:c.405G>A | ENSP00000381604.1:p.Leu135= | |
ENST00000398606.7:c.513G>A | ENSP00000381607.3:p.Leu171= | |
ENST00000467591.1:n.624G>A | ||
ENST00000494593.1:n.1485G>A | ||
ENST00000498765.5:c.576G>A | ||
NM_000852.3:c.513G>A , LRG_723t1:c.513G>A | NP_000843.1:p.Leu171= | |
NM_000852.4:c.513G>A MANE Select | NP_000843.1:p.Leu171= |