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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96121324G= , CM000669.2:g.96121324G=
GRCh38
NC_000007.13:g.95750636G= , CM000669.1:g.95750636G=
GRCh37
NC_000007.12:g.95588572G=
NCBI36
NG_012247.1:g.205824C=
NG_012247.2:g.205824C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.1895C=
MANE Select
ENSP00000265631.6:p.Pro632=
ENST00000265631.9:c.1895C=
ENSP00000265631.5:p.Pro632=
ENST00000416240.6:c.1898C=
ENSP00000400101.2:p.Pro633=
ENST00000494085.1:n.398C=
NM_001160210.1:c.1898C=
NP_001153682.1:p.Pro633=
NM_014251.2:c.1895C=
NP_055066.1:p.Pro632=
NR_027662.1:n.1970C=
XM_006715831.2:c.1928C=
XP_006715894.1:p.Pro643=
XM_011515728.1:c.1043C=
XP_011514030.1:p.Pro348=
XM_006715831.4:c.1928C=
XP_006715894.1:p.Pro643=
XM_017011663.1:c.1886C=
XP_016867152.1:p.Pro629=
XM_017011664.2:c.1043C=
XP_016867153.1:p.Pro348=
XM_017011665.1:c.1043C=
XP_016867154.1:p.Pro348=
XR_001744525.2:n.2141C=
XR_002956405.1:n.2699C=
NM_014251.3:c.1895C=
MANE Select
NP_055066.1:p.Pro632=
NR_027662.2:n.1921C=
NM_001160210.2:c.1898C=
NP_001153682.1:p.Pro633=