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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.22094045C>T , CM000685.2:g.22094045C>T
GRCh38
NC_000023.10:g.22112163C>T , CM000685.1:g.22112163C>T
GRCh37
NC_000023.9:g.22022084C>T
NCBI36
NG_007563.2:g.66243C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000475778.2:n.1221C>T
ENST00000684143.1:c.792C>T
ENSP00000508264.1:p.Ser264=
ENST00000684745.1:n.469C>T
ENST00000379374.5:c.795C>T
MANE Select
ENSP00000368682.4:p.Ser265=
ENST00000379374.4:c.795C>T
ENSP00000368682.4:p.Ser265=
ENST00000475778.1:n.68C>T
NM_000444.5:c.795C>T
NP_000435.3:p.Ser265=
NM_001282754.1:c.795C>T
NP_001269683.1:p.Ser265=
XM_011545533.1:c.39C>T
XP_011543835.1:p.Ser13=
XM_011545534.1:c.39C>T
XP_011543836.1:p.Ser13=
XM_011545535.1:c.795C>T
XP_011543837.1:p.Ser265=
XM_017029579.1:c.39C>T
XP_016885068.1:p.Ser13=
XM_024452390.1:c.504C>T
XP_024308158.1:p.Ser168=
XR_001755695.1:n.1474C>T
NM_000444.6:c.795C>T
MANE Select
NP_000435.3:p.Ser265=
NM_001282754.2:c.795C>T
NP_001269683.1:p.Ser265=