HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128300837A>T , CM000667.2:g.128300837A>T | GRCh38 |
NC_000005.9:g.127636529A>T , CM000667.1:g.127636529A>T | GRCh37 |
NC_000005.8:g.127664428A>T | NCBI36 |
NG_008750.1:g.242207T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2930T>A | ||
ENST00000703785.1:n.2849T>A | ||
ENST00000262464.9:c.6146T>A MANE Select | ENSP00000262464.4:p.Val2049Glu | |
ENST00000262464.8:c.6146T>A | ENSP00000262464.4:p.Val2049Glu | |
ENST00000508053.5:c.6146T>A | ENSP00000424571.1:p.Val2049Glu | |
ENST00000619499.4:c.6143T>A | ENSP00000482132.1:p.Val2048Glu | |
NM_001999.3:c.6146T>A | NP_001990.2:p.Val2049Glu | |
XM_017009228.2:c.5993T>A | XP_016864717.1:p.Val1998Glu | |
NM_001999.4:c.6146T>A MANE Select | NP_001990.2:p.Val2049Glu |