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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96121291G= , CM000669.2:g.96121291G=
GRCh38
NC_000007.13:g.95750603G= , CM000669.1:g.95750603G=
GRCh37
NC_000007.12:g.95588539G=
NCBI36
NG_012247.1:g.205857C=
NG_012247.2:g.205857C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.1928C=
MANE Select
ENSP00000265631.6:p.Ala643=
ENST00000265631.9:c.1928C=
ENSP00000265631.5:p.Ala643=
ENST00000416240.6:c.1931C=
ENSP00000400101.2:p.Ala644=
ENST00000494085.1:n.431C=
NM_001160210.1:c.1931C=
NP_001153682.1:p.Ala644=
NM_014251.2:c.1928C=
NP_055066.1:p.Ala643=
NR_027662.1:n.2003C=
XM_006715831.2:c.1961C=
XP_006715894.1:p.Ala654=
XM_011515728.1:c.1076C=
XP_011514030.1:p.Ala359=
XM_006715831.4:c.1961C=
XP_006715894.1:p.Ala654=
XM_017011663.1:c.1919C=
XP_016867152.1:p.Ala640=
XM_017011664.2:c.1076C=
XP_016867153.1:p.Ala359=
XM_017011665.1:c.1076C=
XP_016867154.1:p.Ala359=
XR_001744525.2:n.2174C=
XR_002956405.1:n.2732C=
NM_014251.3:c.1928C=
MANE Select
NP_055066.1:p.Ala643=
NR_027662.2:n.1954C=
NM_001160210.2:c.1931C=
NP_001153682.1:p.Ala644=