HGVS | Genome Assembly |
---|---|
NC_000015.10:g.64162948A>T , CM000677.2:g.64162948A>T | GRCh38 |
NC_000015.9:g.64455147A>T , CM000677.1:g.64455147A>T | GRCh37 |
NC_000015.8:g.62242200A>T | NCBI36 |
NG_012979.1:g.5208T>A , LRG_10:g.5208T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000300026.4:c.39T>A MANE Select | ENSP00000300026.4:p.Leu13= | |
ENST00000561048.2:n.72T>A | ||
ENST00000680158.1:c.39T>A | ENSP00000504873.1:p.Leu13= | |
ENST00000681397.1:c.39T>A | ENSP00000506584.1:p.Leu13= | |
ENST00000681658.1:c.30+9T>A | ENSP00000505431.1:n.30+9T>A | |
ENST00000300026.3:c.39T>A | ENSP00000300026.3:p.Leu13= | |
ENST00000558492.1:n.59T>A | ||
ENST00000561048.1:n.74T>A | ||
NM_000942.4:c.39T>A , LRG_10t1:c.39T>A | NP_000933.1:p.Leu13= | |
NM_000942.5:c.39T>A MANE Select | NP_000933.1:p.Leu13= |