HGVS | Genome Assembly |
---|---|
NC_000016.10:g.57413275G>A , CM000678.2:g.57413275G>A | GRCh38 |
NC_000016.9:g.57447187G>A , CM000678.1:g.57447187G>A | GRCh37 |
NC_000016.8:g.56004688G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000219244.9:c.-59-599G>A MANE Select | ENSP00000219244.4:n.-59-599G>A | |
ENST00000219244.8:c.-59-599G>A | ENSP00000219244.4:n.-59-599G>A | |
NM_002987.2:c.-59-599G>A | NP_002978.1:n.-59-599G>A | |
XM_011523256.1:c.26-599G>A | XP_011521558.1:n.26-599G>A | |
XM_011523256.2:c.26-599G>A | XP_011521558.1:n.26-599G>A | |
XM_017023530.1:c.26-596G>A | XP_016879019.1:n.26-596G>A | |
NM_002987.3:c.-59-599G>A MANE Select | NP_002978.1:n.-59-599G>A |