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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.90966181T= , CM000677.2:g.90966181T=
GRCh38
NC_000015.9:g.91509411T= , CM000677.1:g.91509411T=
GRCh37
NC_000015.8:g.89310415T=
NCBI36
NG_050647.1:g.33471A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000394249.8:c.*950A=
MANE Select
ENSP00000377793.3:n.*950A=
ENST00000361188.9:c.*950A=
ENSP00000354679.5:n.*950A=
ENST00000394249.7:c.*950A=
ENSP00000377793.3:n.*950A=
ENST00000556972.6:c.597A=
ENSP00000456737.1:n.597A=
NM_001267580.1:c.*993A=
NP_001254509.1:n.*993A=
NM_003981.3:c.*950A=
NP_003972.1:n.*950A=
NM_199413.2:c.*950A=
NP_955445.1:n.*950A=
XM_005254987.1:c.*993A=
XP_005255044.1:n.*993A=
XM_006720759.1:c.*1044A=
XP_006720822.1:n.*1044A=
XM_006720760.1:c.*456A=
XP_006720823.1:n.*456A=
XM_011522187.1:c.*398A=
XP_011520489.1:n.*398A=
XM_011522188.1:c.*398A=
XP_011520490.1:n.*398A=
XM_011522189.1:c.*398A=
XP_011520491.1:n.*398A=
XM_011522190.1:c.*398A=
XP_011520492.1:n.*398A=
XM_011522192.1:c.*398A=
XP_011520494.1:n.*398A=
XM_005254987.3:c.*993A=
XP_005255044.1:n.*993A=
XM_006720759.2:c.*1044A=
XP_006720822.1:n.*1044A=
XM_006720760.2:c.*456A=
XP_006720823.1:n.*456A=
XM_011522187.2:c.*398A=
XP_011520489.1:n.*398A=
XM_011522188.3:c.*398A=
XP_011520490.1:n.*398A=
XM_011522189.2:c.*398A=
XP_011520491.1:n.*398A=
XM_011522191.3:c.*495A=
XP_011520493.1:n.*495A=
XM_011522192.2:c.*398A=
XP_011520494.1:n.*398A=
XM_017022712.2:c.*950A=
XP_016878201.1:n.*950A=
XM_017022713.2:c.*950A=
XP_016878202.1:n.*950A=
XM_017022715.2:c.*950A=
XP_016878204.1:n.*950A=
XM_017022716.2:c.*950A=
XP_016878205.1:n.*950A=
XM_017022717.1:c.*993A=
XP_016878206.1:n.*993A=
NM_003981.4:c.*950A=
MANE Select
NP_003972.2:n.*950A=
NM_001267580.2:c.*993A=
NP_001254509.2:n.*993A=
NM_199413.3:c.*950A=
NP_955445.2:n.*950A=