HGVS | Genome Assembly |
---|---|
NC_000015.10:g.43068024T>A , CM000677.2:g.43068024T>A | GRCh38 |
NC_000015.9:g.43360222T>A , CM000677.1:g.43360222T>A | GRCh37 |
NC_000015.8:g.41147514T>A | NCBI36 |
NG_012182.1:g.43065A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290650.9:c.672A>T MANE Select | ENSP00000290650.4:p.Glu224Asp | |
ENST00000290650.8:c.672A>T | ENSP00000290650.4:p.Glu224Asp | |
ENST00000546274.6:c.672A>T | ENSP00000477932.1:p.Glu224Asp | |
ENST00000563239.1:c.*202+2875A>T | ENSP00000456502.1:n.*202+2875A>T | |
NM_174916.2:c.672A>T | NP_777576.1:p.Glu224Asp | |
NM_174916.3:c.672A>T MANE Select | NP_777576.1:p.Glu224Asp |