HGVS | Genome Assembly |
---|---|
NC_000001.11:g.149884771G>A , CM000663.2:g.149884771G>A | GRCh38 |
NC_000001.10:g.149856321G>A , CM000663.1:g.149856321G>A | GRCh37 |
NC_000001.9:g.148122945G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369155.4:c.*1489C>T MANE Select | ENSP00000358151.2:n.*1489C>T | |
ENST00000369155.3:c.*1489C>T | ENSP00000358151.2:n.*1489C>T | |
ENST00000369160.3:c.377+1493C>T | ENSP00000375736.2:n.377+1493C>T | |
NM_003528.2:c.*1489C>T | NP_003519.1:n.*1489C>T | |
NM_003528.3:c.*1489C>T MANE Select | NP_003519.1:n.*1489C>T |