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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96121249T= , CM000669.2:g.96121249T=
GRCh38
NC_000007.13:g.95750561T= , CM000669.1:g.95750561T=
GRCh37
NC_000007.12:g.95588497T=
NCBI36
NG_012247.1:g.205899A=
NG_012247.2:g.205899A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.1970A=
MANE Select
ENSP00000265631.6:p.Tyr657=
ENST00000265631.9:c.1970A=
ENSP00000265631.5:p.Tyr657=
ENST00000416240.6:c.1973A=
ENSP00000400101.2:p.Tyr658=
ENST00000494085.1:n.473A=
NM_001160210.1:c.1973A=
NP_001153682.1:p.Tyr658=
NM_014251.2:c.1970A=
NP_055066.1:p.Tyr657=
NR_027662.1:n.2045A=
XM_006715831.2:c.2003A=
XP_006715894.1:p.Tyr668=
XM_011515728.1:c.1118A=
XP_011514030.1:p.Tyr373=
XM_006715831.4:c.2003A=
XP_006715894.1:p.Tyr668=
XM_017011663.1:c.1961A=
XP_016867152.1:p.Tyr654=
XM_017011664.2:c.1118A=
XP_016867153.1:p.Tyr373=
XM_017011665.1:c.1118A=
XP_016867154.1:p.Tyr373=
XR_001744525.2:n.2216A=
XR_002956405.1:n.2774A=
NM_014251.3:c.1970A=
MANE Select
NP_055066.1:p.Tyr657=
NR_027662.2:n.1996A=
NM_001160210.2:c.1973A=
NP_001153682.1:p.Tyr658=