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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96121695C= , CM000669.2:g.96121695C=
GRCh38
NC_000007.13:g.95751007C= , CM000669.1:g.95751007C=
GRCh37
NC_000007.12:g.95588943C=
NCBI36
NG_012247.1:g.205453G=
NG_012247.2:g.205453G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.1801G=
MANE Select
ENSP00000265631.6:p.Glu601=
ENST00000265631.9:c.1801G=
ENSP00000265631.5:p.Glu601=
ENST00000416240.6:c.1804G=
ENSP00000400101.2:p.Glu602=
ENST00000494085.1:n.304G=
NM_001160210.1:c.1804G=
NP_001153682.1:p.Glu602=
NM_014251.2:c.1801G=
NP_055066.1:p.Glu601=
NR_027662.1:n.1876G=
XM_006715831.2:c.1834G=
XP_006715894.1:p.Glu612=
XM_011515728.1:c.949G=
XP_011514030.1:p.Glu317=
XM_006715831.4:c.1834G=
XP_006715894.1:p.Glu612=
XM_017011663.1:c.1792G=
XP_016867152.1:p.Glu598=
XM_017011664.2:c.949G=
XP_016867153.1:p.Glu317=
XM_017011665.1:c.949G=
XP_016867154.1:p.Glu317=
XR_001744525.2:n.2047G=
XR_002956405.1:n.2605G=
NM_014251.3:c.1801G=
MANE Select
NP_055066.1:p.Glu601=
NR_027662.2:n.1827G=
NM_001160210.2:c.1804G=
NP_001153682.1:p.Glu602=