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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.119033175G>T , CM000663.2:g.119033175G>T
GRCh38
NC_000001.10:g.119575798G>T , CM000663.1:g.119575798G>T
GRCh37
NC_000001.9:g.119377321G>T
NCBI36
NG_050658.1:g.112614C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000235521.5:c.819C>A
MANE Select
ENSP00000235521.4:p.Ser273=
ENST00000235521.4:c.819C>A
ENSP00000235521.4:p.Ser273=
ENST00000369426.9:c.*185C>A
ENSP00000358434.5:n.*185C>A
NM_015836.3:c.819C>A
NP_056651.1:p.Ser273=
NM_201263.2:c.*185C>A
NP_957715.1:n.*185C>A
XM_005270350.2:c.765C>A
XP_005270407.1:p.Ser255=
XM_006710283.1:c.537C>A
XP_006710346.1:p.Ser179=
XM_011540493.1:c.750C>A
XP_011538795.1:p.Ser250=
XM_011540494.1:c.750C>A
XP_011538796.1:p.Ser250=
XM_011540495.1:c.561C>A
XP_011538797.1:p.Ser187=
XM_005270350.3:c.765C>A
XP_005270407.1:p.Ser255=
XM_011540494.2:c.750C>A
XP_011538796.1:p.Ser250=
XM_011540495.2:c.561C>A
XP_011538797.1:p.Ser187=
XM_017000038.1:c.762C>A
XP_016855527.1:p.Ser254=
XM_017000039.1:c.750C>A
XP_016855528.1:p.Ser250=
XM_017000040.1:c.648C>A
XP_016855529.1:p.Ser216=
XM_017000041.2:c.480C>A
XP_016855530.1:p.Ser160=
XM_017000042.1:c.*154C>A
XP_016855531.1:n.*154C>A
XM_024449826.1:c.750C>A
XP_024305594.1:p.Ser250=
XM_024449860.1:c.537C>A
XP_024305628.1:p.Ser179=
XM_024449871.1:c.537C>A
XP_024305639.1:p.Ser179=
NM_001378226.1:c.750C>A
NP_001365155.1:p.Ser250=
NM_001378227.1:c.750C>A
NP_001365156.1:p.Ser250=
NM_001378228.1:c.648C>A
NP_001365157.1:p.Ser216=
NM_001378229.1:c.561C>A
NP_001365158.1:p.Ser187=
NM_001378230.1:c.537C>A
NP_001365159.1:p.Ser179=
NM_001378231.1:c.*154C>A
NP_001365160.1:n.*154C>A
NM_015836.4:c.819C>A
MANE Select
NP_056651.1:p.Ser273=