HGVS | Genome Assembly |
---|---|
NC_000012.12:g.91107495T>C , CM000674.2:g.91107495T>C | GRCh38 |
NC_000012.11:g.91501272T>C , CM000674.1:g.91501272T>C | GRCh37 |
NC_000012.10:g.90025403T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266718.5:c.862+623A>G MANE Select | ENSP00000266718.4:n.862+623A>G | |
ENST00000266718.4:c.862+623A>G | ENSP00000266718.4:n.862+623A>G | |
ENST00000546642.1:n.612+623A>G | ||
ENST00000548071.1:n.255+623A>G | ||
NM_002345.3:c.862+623A>G | NP_002336.1:n.862+623A>G | |
NM_002345.4:c.862+623A>G MANE Select | NP_002336.1:n.862+623A>G |