HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55157645G>T , CM000681.2:g.55157645G>T | GRCh38 |
NC_000019.9:g.55669013G>T , CM000681.1:g.55669013G>T | GRCh37 |
NC_000019.8:g.60360825G>T | NCBI36 |
NG_007866.2:g.5088C>A , LRG_432:g.5088C>A | |
NG_032759.1:g.14078C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.-56C>A MANE Select | ENSP00000341838.5:n.-56C>A | |
ENST00000665070.1:c.-56C>A | ENSP00000499482.1:n.-56C>A | |
ENST00000344887.9:c.-56C>A | ENSP00000341838.5:n.-56C>A | |
ENST00000586446.1:n.88C>A | ||
ENST00000587176.5:n.129C>A | ||
ENST00000587871.1:c.565C>A | ||
ENST00000590463.1:n.72C>A | ||
NM_000363.4:c.-56C>A , LRG_432t1:c.-56C>A | NP_000354.4:n.-56C>A | |
NM_000363.5:c.-56C>A MANE Select | NP_000354.4:n.-56C>A |