HGVS | Genome Assembly |
---|---|
NC_000008.11:g.81478721G>T , CM000670.2:g.81478721G>T | GRCh38 |
NC_000008.10:g.82390956G>T , CM000670.1:g.82390956G>T | GRCh37 |
NC_000008.9:g.82553511G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256104.5:c.*144C>A MANE Select | ENSP00000256104.4:n.*144C>A | |
ENST00000256104.4:c.*144C>A | ENSP00000256104.4:n.*144C>A | |
ENST00000518669.5:n.478C>A | ||
ENST00000521734.1:n.752C>A | ||
ENST00000522659.1:c.*419C>A | ENSP00000428385.1:n.*419C>A | |
NM_001442.2:c.*144C>A | NP_001433.1:n.*144C>A | |
XR_001745980.1:n.514+16747G>T | ||
NM_001442.3:c.*144C>A MANE Select | NP_001433.1:n.*144C>A |