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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30998693C= , CM000679.2:g.30998693C=
GRCh38
NC_000017.10:g.29325711C= , CM000679.1:g.29325711C=
GRCh37
NC_000017.9:g.26349837C=
NCBI36
NG_011701.1:g.32756C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000328381.10:c.801C=
MANE Select
ENSP00000328340.5:p.Ser267=
ENST00000324689.8:c.*5C=
ENSP00000323693.4:n.*5C=
ENST00000328381.9:c.801C=
ENSP00000328340.5:p.Ser267=
ENST00000443677.6:c.*5C=
ENSP00000411965.2:n.*5C=
ENST00000535306.6:c.*5C=
ENSP00000440470.2:n.*5C=
NM_001184992.1:c.*5C=
NP_001171921.1:n.*5C=
NM_032322.3:c.801C=
NP_115698.3:p.Ser267=
NM_197939.1:c.*5C=
NP_922921.1:n.*5C=
XM_005258043.3:c.258C=
XP_005258100.1:p.Ser86=
XM_006722138.2:c.480C=
XP_006722201.1:p.Ser160=
XM_017025223.1:c.258C=
XP_016880712.1:p.Ser86=
XM_024451000.1:c.258C=
XP_024306768.1:p.Ser86=
XM_024451001.1:c.258C=
XP_024306769.1:p.Ser86=
XR_002958076.1:n.1134C=
XR_002958077.1:n.1069C=
XR_002958078.1:n.906C=
NM_032322.4:c.801C=
MANE Select
NP_115698.3:p.Ser267=
NM_001184992.2:c.*5C=
NP_001171921.1:n.*5C=
NM_197939.2:c.*5C=
NP_922921.1:n.*5C=