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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.92517402C= , CM000669.2:g.92517402C=
GRCh38
NC_000007.13:g.92146716C= , CM000669.1:g.92146716C=
GRCh37
NC_000007.12:g.91984652C=
NCBI36
NG_008341.1:g.16130G=
NG_008341.2:g.16130G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000248633.9:c.1113G=
MANE Select
ENSP00000248633.4:p.Arg371=
ENST00000248633.8:c.1113G=
ENSP00000248633.4:p.Arg371=
ENST00000422866.1:c.14G=
ENST00000428214.5:c.1113G=
ENSP00000394413.1:p.Arg371=
ENST00000438045.5:c.274-3435G=
ENSP00000410438.1:n.274-3435G=
ENST00000484913.5:n.1152G=
NM_000466.2:c.1113G=
NP_000457.1:p.Arg371=
NM_001282677.1:c.1113G=
NP_001269606.1:p.Arg371=
NM_001282678.1:c.489G=
NP_001269607.1:p.Arg163=
XR_242246.3:n.1209G=
XM_017012319.2:c.-554G=
XP_016867808.1:n.-554G=
XR_001744808.2:n.223G=
XR_242246.5:n.1160G=
NM_000466.3:c.1113G=
MANE Select
NP_000457.1:p.Arg371=
NM_001282677.2:c.1113G=
NP_001269606.1:p.Arg371=
NM_001282678.2:c.489G=
NP_001269607.1:p.Arg163=