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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96193061A>G , CM000669.2:g.96193061A>G
GRCh38
NC_000007.13:g.95822373A>G , CM000669.1:g.95822373A>G
GRCh37
NC_000007.12:g.95660309A>G
NCBI36
NG_012247.1:g.134087T>C
NG_012247.2:g.134087T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.591T>C
MANE Select
ENSP00000265631.6:p.Pro197=
ENST00000265631.9:c.591T>C
ENSP00000265631.5:p.Pro197=
ENST00000416240.6:c.591T>C
ENSP00000400101.2:p.Pro197=
NM_001160210.1:c.591T>C
NP_001153682.1:p.Pro197=
NM_014251.2:c.591T>C
NP_055066.1:p.Pro197=
NR_027662.1:n.666T>C
XM_006715831.2:c.624T>C
XP_006715894.1:p.Pro208=
XM_011515727.1:c.624T>C
XP_011514029.1:p.Pro208=
XM_006715831.4:c.624T>C
XP_006715894.1:p.Pro208=
XM_011515727.3:c.624T>C
XP_011514029.1:p.Pro208=
XM_017011663.1:c.582T>C
XP_016867152.1:p.Pro194=
XM_017011664.2:c.-168T>C
XP_016867153.1:n.-168T>C
XM_017011665.1:c.-168T>C
XP_016867154.1:n.-168T>C
XR_001744525.2:n.762T>C
XR_002956405.1:n.904T>C
NM_014251.3:c.591T>C
MANE Select
NP_055066.1:p.Pro197=
NR_027662.2:n.617T>C
NM_001160210.2:c.591T>C
NP_001153682.1:p.Pro197=