HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085581C>A , CM000666.2:g.186085581C>A | GRCh38 |
NC_000004.11:g.187006735C>A , CM000666.1:g.187006735C>A | GRCh37 |
NC_000004.10:g.187243729C>A | NCBI36 |
NG_007278.1:g.21427C>A , LRG_117:g.21427C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698352.1:c.*2975C>A | ENSP00000513675.1:n.*2975C>A | |
ENST00000698353.1:n.3298C>A | ||
ENST00000698354.1:c.*708C>A | ENSP00000513676.1:n.*708C>A | |
ENST00000296795.8:c.*708C>A MANE Select | ENSP00000296795.3:n.*708C>A | |
ENST00000296795.7:c.*708C>A | ENSP00000296795.2:n.*708C>A | |
NM_003265.3:c.*708C>A MANE Select | NP_003256.1:n.*708C>A |