HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49123194G>T , CM000665.2:g.49123194G>T | GRCh38 |
NC_000003.11:g.49160627G>T , CM000665.1:g.49160627G>T | GRCh37 |
NC_000003.10:g.49135631G>T | NCBI36 |
NG_008094.1:g.14973C>A | |
NG_054716.1:g.2745C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000305544.9:c.4162C>A MANE Select | ENSP00000307156.4:p.Arg1388= | |
ENST00000305544.8:c.4162C>A | ENSP00000307156.4:p.Arg1388= | |
ENST00000418109.5:c.4162C>A | ENSP00000388325.1:p.Arg1388= | |
ENST00000469665.1:n.392C>A | ||
NM_002292.3:c.4162C>A | NP_002283.3:p.Arg1388= | |
XM_005265127.3:c.4162C>A | XP_005265184.1:p.Arg1388= | |
XM_005265127.4:c.4162C>A | XP_005265184.1:p.Arg1388= | |
NM_002292.4:c.4162C>A MANE Select | NP_002283.3:p.Arg1388= |