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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.100281332G= , CM000677.2:g.100281332G=
GRCh38
NC_000015.9:g.100821537G= , CM000677.1:g.100821537G=
GRCh37
NC_000015.8:g.98639060G=
NCBI36
NG_016287.1:g.65647C=
NG_016287.2:g.65647C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000268070.9:c.686C=
MANE Select
ENSP00000268070.4:p.Thr229=
ENST00000568565.2:c.686C=
ENSP00000456161.2:p.Thr229=
ENST00000268070.8:c.686C=
ENSP00000268070.4:p.Thr229=
ENST00000378898.8:n.367C=
ENST00000558960.1:c.*108C=
ENSP00000453604.1:n.*108C=
NM_139057.2:c.686C=
NP_620688.2:p.Thr229=
XM_005254872.2:c.686C=
XP_005254929.1:p.Thr229=
XM_011521312.1:c.686C=
XP_011519614.1:p.Thr229=
NM_139057.3:c.686C=
NP_620688.2:p.Thr229=
XM_005254872.3:c.686C=
XP_005254929.1:p.Thr229=
XM_011521312.2:c.686C=
XP_011519614.1:p.Thr229=
XM_017021973.2:c.686C=
XP_016877462.1:p.Thr229=
XM_017021974.1:c.686C=
XP_016877463.1:p.Thr229=
XM_017021975.1:c.686C=
XP_016877464.1:p.Thr229=
XM_017021976.1:c.-44C=
XP_016877465.1:n.-44C=
XM_017021977.1:c.686C=
XP_016877466.1:p.Thr229=
XM_017021981.1:c.686C=
XP_016877470.1:p.Thr229=
XM_017021984.1:c.-44C=
XP_016877473.1:n.-44C=
XR_001751118.1:n.1708C=
XR_001751119.1:n.1708C=
XR_001751120.1:n.1708C=
NM_139057.4:c.686C=
MANE Select
NP_620688.2:p.Thr229=