HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48929450G>A , CM000677.2:g.48929450G>A | GRCh38 |
NC_000015.9:g.49221647G>A , CM000677.1:g.49221647G>A | GRCh37 |
NC_000015.8:g.47008939G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332408.9:c.586-4501C>T MANE Select | ENSP00000329668.4:n.586-4501C>T | |
ENST00000332408.8:c.586-4501C>T | ENSP00000329668.4:n.586-4501C>T | |
NM_203349.3:c.586-4501C>T | NP_976224.3:n.586-4501C>T | |
XM_005254375.2:c.37-4501C>T | XP_005254432.1:n.37-4501C>T | |
XM_011521552.1:c.-3-4501C>T | XP_011519854.1:n.-3-4501C>T | |
XM_005254375.3:c.37-4501C>T | XP_005254432.1:n.37-4501C>T | |
NM_203349.4:c.586-4501C>T MANE Select | NP_976224.3:n.586-4501C>T |