HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159328609G= , CM000667.2:g.159328609G= | GRCh38 |
NC_000005.9:g.158755617G= , CM000667.1:g.158755617G= | GRCh37 |
NC_000005.8:g.158688195G= | NCBI36 |
NG_009618.1:g.6865C= , LRG_71:g.6865C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.-149+1823C= | ENSP00000512849.1:n.-149+1823C= | |
ENST00000696751.1:c.-1+1823C= | ENSP00000512850.1:n.-1+1823C= | |
ENST00000696752.1:n.432+1823C= | ||
ENST00000231228.3:c.-1+1823C= MANE Select | ENSP00000231228.2:n.-1+1823C= | |
ENST00000231228.2:c.-1+1823C= | ENSP00000231228.2:n.-1+1823C= | |
NM_002187.2:c.-1+1823C= , LRG_71t1:c.-1+1823C= | NP_002178.2:n.-1+1823C= | |
NM_002187.3:c.-1+1823C= MANE Select | NP_002178.2:n.-1+1823C= |