HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119050554C>A , CM000672.2:g.119050554C>A | GRCh38 |
NC_000010.10:g.120810066C>A , CM000672.1:g.120810066C>A | GRCh37 |
NC_000010.9:g.120800056C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369144.8:c.2440G>T MANE Select | ENSP00000358140.3:p.Glu814Ter | |
ENST00000369144.7:c.2440G>T | ENSP00000358140.3:p.Glu814Ter | |
ENST00000541549.2:c.2440G>T | ENSP00000438178.2:p.Glu814Ter | |
NM_003750.2:c.2440G>T | NP_003741.1:p.Glu814Ter | |
NM_003750.3:c.2440G>T | NP_003741.1:p.Glu814Ter | |
NM_003750.4:c.2440G>T MANE Select | NP_003741.1:p.Glu814Ter |