HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49125477C>T , CM000665.2:g.49125477C>T | GRCh38 |
NC_000003.11:g.49162910C>T , CM000665.1:g.49162910C>T | GRCh37 |
NC_000003.10:g.49137914C>T | NCBI36 |
NG_008094.1:g.12690G>A | |
NG_054716.1:g.462G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305544.9:c.2496G>A MANE Select | ENSP00000307156.4:p.Gln832= | |
ENST00000305544.8:c.2496G>A | ENSP00000307156.4:p.Gln832= | |
ENST00000418109.5:c.2496G>A | ENSP00000388325.1:p.Gln832= | |
ENST00000464891.5:n.245G>A | ||
ENST00000477701.1:n.369G>A | ||
ENST00000483057.1:n.96G>A | ||
ENST00000486298.5:n.426-308G>A | ||
NM_002292.3:c.2496G>A | NP_002283.3:p.Gln832= | |
XM_005265127.3:c.2496G>A | XP_005265184.1:p.Gln832= | |
XM_005265127.4:c.2496G>A | XP_005265184.1:p.Gln832= | |
NM_002292.4:c.2496G>A MANE Select | NP_002283.3:p.Gln832= |