HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73329473G>A , CM000677.2:g.73329473G>A | GRCh38 |
NC_000015.9:g.73621814G>A , CM000677.1:g.73621814G>A | GRCh37 |
NC_000015.8:g.71408867G>A | NCBI36 |
NG_009063.1:g.44792C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.1590+100C>T MANE Select | ENSP00000261917.3:n.1590+100C>T | |
ENST00000261917.3:c.1590+100C>T | ENSP00000261917.3:n.1590+100C>T | |
NM_005477.2:c.1590+100C>T | NP_005468.1:n.1590+100C>T | |
XM_011521148.1:c.372+100C>T | XP_011519450.1:n.372+100C>T | |
XM_011521148.2:c.372+100C>T | XP_011519450.1:n.372+100C>T | |
NM_005477.3:c.1590+100C>T MANE Select | NP_005468.1:n.1590+100C>T |