HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133636625T>A , CM000671.2:g.133636625T>A | GRCh38 |
NC_000009.11:g.136501747T>A , CM000671.1:g.136501747T>A | GRCh37 |
NC_000009.10:g.135491568T>A | NCBI36 |
NG_008645.1:g.5263T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263611.3:c.248T>A | ENSP00000263611.3:p.Val83Asp | |
ENST00000393056.8:c.254T>A MANE Select | ENSP00000376776.2:p.Val85Asp | |
ENST00000263611.2:c.212T>A | ENSP00000263611.2:p.Val71Asp | |
ENST00000393056.6:c.254T>A | ENSP00000376776.2:p.Val85Asp | |
NM_000787.3:c.254T>A | NP_000778.3:p.Val85Asp | |
NM_000787.4:c.254T>A MANE Select | NP_000778.3:p.Val85Asp |