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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96121696G= , CM000669.2:g.96121696G=
GRCh38
NC_000007.13:g.95751008G= , CM000669.1:g.95751008G=
GRCh37
NC_000007.12:g.95588944G=
NCBI36
NG_012247.1:g.205452C=
NG_012247.2:g.205452C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.1800C=
MANE Select
ENSP00000265631.6:p.Tyr600=
ENST00000265631.9:c.1800C=
ENSP00000265631.5:p.Tyr600=
ENST00000416240.6:c.1803C=
ENSP00000400101.2:p.Tyr601=
ENST00000494085.1:n.303C=
NM_001160210.1:c.1803C=
NP_001153682.1:p.Tyr601=
NM_014251.2:c.1800C=
NP_055066.1:p.Tyr600=
NR_027662.1:n.1875C=
XM_006715831.2:c.1833C=
XP_006715894.1:p.Tyr611=
XM_011515728.1:c.948C=
XP_011514030.1:p.Tyr316=
XM_006715831.4:c.1833C=
XP_006715894.1:p.Tyr611=
XM_017011663.1:c.1791C=
XP_016867152.1:p.Tyr597=
XM_017011664.2:c.948C=
XP_016867153.1:p.Tyr316=
XM_017011665.1:c.948C=
XP_016867154.1:p.Tyr316=
XR_001744525.2:n.2046C=
XR_002956405.1:n.2604C=
NM_014251.3:c.1800C=
MANE Select
NP_055066.1:p.Tyr600=
NR_027662.2:n.1826C=
NM_001160210.2:c.1803C=
NP_001153682.1:p.Tyr601=