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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.13608675G= , CM000674.2:g.13608675G=
GRCh38
NC_000012.11:g.13761609G= , CM000674.1:g.13761609G=
GRCh37
NC_000012.10:g.13652876G=
NCBI36
NG_031854.1:g.376414C=
NG_031854.2:g.378338C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000609686.4:c.1938C=
MANE Select
ENSP00000477455.1:p.Tyr646=
ENST00000628166.2:n.198C=
ENST00000609686.3:c.1938C=
ENSP00000477455.1:p.Tyr646=
ENST00000628166.1:n.198C=
NM_000834.3:c.1938C=
NP_000825.2:p.Tyr646=
XM_011520628.1:c.1938C=
XP_011518930.1:p.Tyr646=
XM_011520629.1:c.1938C=
XP_011518931.1:p.Tyr646=
XM_011520630.1:c.1938C=
XP_011518932.1:p.Tyr646=
XR_931372.1:n.179-6423G=
XR_931373.1:n.236G=
NM_000834.4:c.1938C=
NP_000825.2:p.Tyr646=
XM_005253351.3:c.-116C=
XP_005253408.1:n.-116C=
XM_011520628.2:c.1938C=
XP_011518930.1:p.Tyr646=
XM_011520629.2:c.1938C=
XP_011518931.1:p.Tyr646=
XM_017019219.2:c.1938C=
XP_016874708.1:p.Tyr646=
XR_001749013.1:n.375G=
XR_931372.2:n.316-6423G=
XR_931373.2:n.375G=
NM_000834.5:c.1938C=
MANE Select
NP_000825.2:p.Tyr646=