HGVS | Genome Assembly |
---|---|
NC_000006.12:g.99613053T>A , CM000668.2:g.99613053T>A | GRCh38 |
NC_000006.11:g.100060929T>A , CM000668.1:g.100060929T>A | GRCh37 |
NC_000006.10:g.100167650T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369215.5:c.418T>A MANE Select | ENSP00000358217.5:p.Trp140Arg | |
ENST00000369214.2:c.*80T>A | ENSP00000358216.2:n.*80T>A | |
ENST00000369215.4:c.418T>A | ENSP00000358217.4:p.Trp140Arg | |
NM_021620.3:c.418T>A | NP_067633.2:p.Trp140Arg | |
NM_021620.4:c.418T>A MANE Select | NP_067633.2:p.Trp140Arg |