HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40472100T>A , CM000677.2:g.40472100T>A | GRCh38 |
NC_000015.9:g.40764299T>A , CM000677.1:g.40764299T>A | GRCh37 |
NC_000015.8:g.38551591T>A | NCBI36 |
NG_017074.1:g.6140T>A , LRG_600:g.6140T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306243.7:c.887T>A MANE Select | ENSP00000307297.6:p.Val296Glu | |
ENST00000306243.6:c.887T>A | ENSP00000307297.5:p.Val296Glu | |
ENST00000559991.1:c.812T>A | ENSP00000453882.1:p.Val271Glu | |
NM_130468.3:c.887T>A , LRG_600t1:c.887T>A | NP_569735.1:p.Val296Glu | |
NM_130468.4:c.887T>A MANE Select | NP_569735.1:p.Val296Glu |