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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.90966269G= , CM000677.2:g.90966269G=
GRCh38
NC_000015.9:g.91509499G= , CM000677.1:g.91509499G=
GRCh37
NC_000015.8:g.89310503G=
NCBI36
NG_050647.1:g.33383C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000394249.8:c.*862C=
MANE Select
ENSP00000377793.3:n.*862C=
ENST00000643536.1:c.*4487C=
ENSP00000494429.1:n.*4487C=
ENST00000361188.9:c.*862C=
ENSP00000354679.5:n.*862C=
ENST00000394249.7:c.*862C=
ENSP00000377793.3:n.*862C=
ENST00000556972.6:c.509C=
ENSP00000456737.1:n.509C=
NM_001267580.1:c.*905C=
NP_001254509.1:n.*905C=
NM_003981.3:c.*862C=
NP_003972.1:n.*862C=
NM_199413.2:c.*862C=
NP_955445.1:n.*862C=
XM_005254987.1:c.*905C=
XP_005255044.1:n.*905C=
XM_006720759.1:c.*956C=
XP_006720822.1:n.*956C=
XM_006720760.1:c.*368C=
XP_006720823.1:n.*368C=
XM_011522187.1:c.*310C=
XP_011520489.1:n.*310C=
XM_011522188.1:c.*310C=
XP_011520490.1:n.*310C=
XM_011522189.1:c.*310C=
XP_011520491.1:n.*310C=
XM_011522190.1:c.*310C=
XP_011520492.1:n.*310C=
XM_011522192.1:c.*310C=
XP_011520494.1:n.*310C=
XM_005254987.3:c.*905C=
XP_005255044.1:n.*905C=
XM_006720759.2:c.*956C=
XP_006720822.1:n.*956C=
XM_006720760.2:c.*368C=
XP_006720823.1:n.*368C=
XM_011522187.2:c.*310C=
XP_011520489.1:n.*310C=
XM_011522188.3:c.*310C=
XP_011520490.1:n.*310C=
XM_011522189.2:c.*310C=
XP_011520491.1:n.*310C=
XM_011522191.3:c.*407C=
XP_011520493.1:n.*407C=
XM_011522192.2:c.*310C=
XP_011520494.1:n.*310C=
XM_017022712.2:c.*862C=
XP_016878201.1:n.*862C=
XM_017022713.2:c.*862C=
XP_016878202.1:n.*862C=
XM_017022715.2:c.*862C=
XP_016878204.1:n.*862C=
XM_017022716.2:c.*862C=
XP_016878205.1:n.*862C=
XM_017022717.1:c.*905C=
XP_016878206.1:n.*905C=
NM_003981.4:c.*862C=
MANE Select
NP_003972.2:n.*862C=
NM_001267580.2:c.*905C=
NP_001254509.2:n.*905C=
NM_199413.3:c.*862C=
NP_955445.2:n.*862C=