HGVS | Genome Assembly |
---|---|
NC_000019.10:g.32859841C>T , CM000681.2:g.32859841C>T | GRCh38 |
NC_000019.9:g.33350747C>T , CM000681.1:g.33350747C>T | GRCh37 |
NC_000019.8:g.38042587C>T | NCBI36 |
NG_008258.1:g.14937G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000023064.9:c.873G>A MANE Select | ENSP00000023064.3:p.Val291= | |
ENST00000023064.8:c.873G>A | ENSP00000023064.3:p.Val291= | |
ENST00000587772.1:c.873G>A | ENSP00000468439.1:p.Val291= | |
ENST00000589659.1:n.818G>A | ||
ENST00000590341.5:c.873G>A | ENSP00000464822.1:p.Val291= | |
ENST00000590465.5:c.*1020G>A | ENSP00000468076.1:n.*1020G>A | |
ENST00000592232.5:c.*379G>A | ENSP00000465563.1:n.*379G>A | |
NM_001126335.1:c.873G>A | NP_001119807.1:p.Val291= | |
NM_001243036.1:c.873G>A | NP_001229965.1:p.Val291= | |
NM_014270.4:c.873G>A | NP_055085.1:p.Val291= | |
XM_006722992.1:c.192G>A | XP_006723055.1:p.Val64= | |
XM_011526402.1:c.873G>A | XP_011524704.1:p.Val291= | |
XM_011526402.3:c.873G>A | XP_011524704.1:p.Val291= | |
XM_017026230.1:c.609G>A | XP_016881719.1:p.Val203= | |
XM_024451334.1:c.246G>A | XP_024307102.1:p.Val82= | |
NM_014270.5:c.873G>A MANE Select | NP_055085.1:p.Val291= | |
NM_001126335.2:c.873G>A | NP_001119807.1:p.Val291= | |
NM_001243036.2:c.873G>A | NP_001229965.1:p.Val291= |