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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.115768343C= , CM000664.2:g.115768343C=
GRCh38
NC_000002.11:g.116525919C= , CM000664.1:g.116525919C=
GRCh37
NC_000002.10:g.116242389C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000410059.6:c.1160C=
MANE Select
ENSP00000386565.1:p.Thr387=
ENST00000310323.12:c.1139C=
ENSP00000309066.8:p.Thr380=
ENST00000393147.6:c.1172C=
ENSP00000376855.2:p.Thr391=
ENST00000409163.5:c.1010C=
ENSP00000387038.1:p.Thr337=
ENST00000410059.5:c.1160C=
ENSP00000386565.1:p.Thr387=
NM_001004360.3:c.1139C=
NP_001004360.2:p.Thr380=
NM_001178034.1:c.1172C=
NP_001171505.1:p.Thr391=
NM_001178036.1:c.1010C=
NP_001171507.1:p.Thr337=
NM_001178037.1:c.1148C=
NP_001171508.1:p.Thr383=
NM_020868.3:c.1160C=
NP_065919.2:p.Thr387=
XM_011511526.1:c.1139C=
XP_011509828.1:p.Thr380=
XM_011511527.1:c.1010C=
XP_011509829.1:p.Thr337=
XM_011511528.1:c.908C=
XP_011509830.1:p.Thr303=
NM_001321905.1:c.1211C=
NP_001308834.1:p.Thr404=
NM_001321906.1:c.1139C=
NP_001308835.1:p.Thr380=
NM_001321907.1:c.1121C=
NP_001308836.1:p.Thr374=
NM_001321908.1:c.1070C=
NP_001308837.1:p.Thr357=
NM_001321909.1:c.1043C=
NP_001308838.1:p.Thr348=
NM_001321910.1:c.1010C=
NP_001308839.1:p.Thr337=
NM_001321911.1:c.1010C=
NP_001308840.1:p.Thr337=
NM_001321912.1:c.1010C=
NP_001308841.1:p.Thr337=
NM_001321913.1:c.398C=
NP_001308842.1:p.Thr133=
NM_001321914.1:c.398C=
NP_001308843.1:p.Thr133=
NM_020868.4:c.1160C=
NP_065919.2:p.Thr387=
XM_017004566.1:c.1037C=
XP_016860055.1:p.Thr346=
XM_024453023.1:c.1100C=
XP_024308791.1:p.Thr367=
NM_001004360.4:c.1139C=
NP_001004360.3:p.Thr380=
NM_001178036.2:c.1010C=
NP_001171507.2:p.Thr337=
NM_001178037.2:c.1148C=
NP_001171508.2:p.Thr383=
NM_001321905.2:c.1211C=
NP_001308834.2:p.Thr404=
NM_001321907.2:c.1121C=
NP_001308836.2:p.Thr374=
NM_001321908.2:c.1070C=
NP_001308837.2:p.Thr357=
NM_001321909.2:c.1043C=
NP_001308838.2:p.Thr348=
NM_001321910.2:c.1010C=
NP_001308839.2:p.Thr337=
NM_001321911.2:c.1010C=
NP_001308840.2:p.Thr337=
NM_001321912.2:c.1010C=
NP_001308841.2:p.Thr337=
NM_001321913.2:c.398C=
NP_001308842.2:p.Thr133=
NM_020868.6:c.1160C=
MANE Select
NP_065919.3:p.Thr387=
NM_001004360.5:c.1139C=
NP_001004360.3:p.Thr380=
NM_001178036.3:c.1010C=
NP_001171507.2:p.Thr337=
NM_001178037.3:c.1148C=
NP_001171508.2:p.Thr383=
NM_001321905.3:c.1211C=
NP_001308834.2:p.Thr404=
NM_001321906.2:c.1139C=
NP_001308835.2:p.Thr380=
NM_001321907.3:c.1121C=
NP_001308836.2:p.Thr374=
NM_001321908.3:c.1070C=
NP_001308837.2:p.Thr357=
NM_001321909.3:c.1043C=
NP_001308838.2:p.Thr348=
NM_001321910.3:c.1010C=
NP_001308839.2:p.Thr337=
NM_001321911.3:c.1010C=
NP_001308840.2:p.Thr337=
NM_001321912.3:c.1010C=
NP_001308841.2:p.Thr337=
NM_001321913.3:c.398C=
NP_001308842.2:p.Thr133=
NM_001321914.2:c.398C=
NP_001308843.2:p.Thr133=
NM_001399849.1:c.1010C=
NP_001386778.1:p.Thr337=
NM_001399850.1:c.398C=
NP_001386779.1:p.Thr133=
NM_001399851.1:c.908C=
NP_001386780.1:p.Thr303=