HGVS | Genome Assembly |
---|---|
NC_000012.12:g.91107470T>A , CM000674.2:g.91107470T>A | GRCh38 |
NC_000012.11:g.91501247T>A , CM000674.1:g.91501247T>A | GRCh37 |
NC_000012.10:g.90025378T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266718.5:c.862+648A>T MANE Select | ENSP00000266718.4:n.862+648A>T | |
ENST00000266718.4:c.862+648A>T | ENSP00000266718.4:n.862+648A>T | |
ENST00000546642.1:n.612+648A>T | ||
ENST00000548071.1:n.255+648A>T | ||
NM_002345.3:c.862+648A>T | NP_002336.1:n.862+648A>T | |
NM_002345.4:c.862+648A>T MANE Select | NP_002336.1:n.862+648A>T |