HGVS | Genome Assembly |
---|---|
NC_000008.11:g.81478722T>A , CM000670.2:g.81478722T>A | GRCh38 |
NC_000008.10:g.82390957T>A , CM000670.1:g.82390957T>A | GRCh37 |
NC_000008.9:g.82553512T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256104.5:c.*143A>T MANE Select | ENSP00000256104.4:n.*143A>T | |
ENST00000256104.4:c.*143A>T | ENSP00000256104.4:n.*143A>T | |
ENST00000518669.5:n.477A>T | ||
ENST00000521734.1:n.751A>T | ||
ENST00000522659.1:c.*418A>T | ENSP00000428385.1:n.*418A>T | |
NM_001442.2:c.*143A>T | NP_001433.1:n.*143A>T | |
XR_001745980.1:n.514+16748T>A | ||
NM_001442.3:c.*143A>T MANE Select | NP_001433.1:n.*143A>T |