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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.92517503G>A , CM000669.2:g.92517503G>A
GRCh38
NC_000007.13:g.92146817G>A , CM000669.1:g.92146817G>A
GRCh37
NC_000007.12:g.91984753G>A
NCBI36
NG_008341.1:g.16029C>T
NG_008341.2:g.16029C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000248633.9:c.1012C>T
MANE Select
ENSP00000248633.4:p.Leu338=
ENST00000248633.8:c.1012C>T
ENSP00000248633.4:p.Leu338=
ENST00000428214.5:c.1012C>T
ENSP00000394413.1:p.Leu338=
ENST00000438045.5:c.274-3536C>T
ENSP00000410438.1:n.274-3536C>T
ENST00000484913.5:n.1051C>T
NM_000466.2:c.1012C>T
NP_000457.1:p.Leu338=
NM_001282677.1:c.1012C>T
NP_001269606.1:p.Leu338=
NM_001282678.1:c.388C>T
NP_001269607.1:p.Leu130=
XR_242246.3:n.1108C>T
XM_017012319.2:c.-655C>T
XP_016867808.1:n.-655C>T
XR_001744808.2:n.122C>T
XR_242246.5:n.1059C>T
NM_000466.3:c.1012C>T
MANE Select
NP_000457.1:p.Leu338=
NM_001282677.2:c.1012C>T
NP_001269606.1:p.Leu338=
NM_001282678.2:c.388C>T
NP_001269607.1:p.Leu130=