HGVS | Genome Assembly |
---|---|
NC_000008.11:g.81478636C>A , CM000670.2:g.81478636C>A | GRCh38 |
NC_000008.10:g.82390871C>A , CM000670.1:g.82390871C>A | GRCh37 |
NC_000008.9:g.82553426C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256104.5:c.*229G>T MANE Select | ENSP00000256104.4:n.*229G>T | |
ENST00000256104.4:c.*229G>T | ENSP00000256104.4:n.*229G>T | |
NM_001442.2:c.*229G>T | NP_001433.1:n.*229G>T | |
XR_001745980.1:n.514+16662C>A | ||
NM_001442.3:c.*229G>T MANE Select | NP_001433.1:n.*229G>T |