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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.92517522T>G , CM000669.2:g.92517522T>G
GRCh38
NC_000007.13:g.92146836T>G , CM000669.1:g.92146836T>G
GRCh37
NC_000007.12:g.91984772T>G
NCBI36
NG_008341.1:g.16010A>C
NG_008341.2:g.16010A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000248633.9:c.993A>C
MANE Select
ENSP00000248633.4:p.Thr331=
ENST00000248633.8:c.993A>C
ENSP00000248633.4:p.Thr331=
ENST00000428214.5:c.993A>C
ENSP00000394413.1:p.Thr331=
ENST00000438045.5:c.274-3555A>C
ENSP00000410438.1:n.274-3555A>C
ENST00000484913.5:n.1032A>C
NM_000466.2:c.993A>C
NP_000457.1:p.Thr331=
NM_001282677.1:c.993A>C
NP_001269606.1:p.Thr331=
NM_001282678.1:c.369A>C
NP_001269607.1:p.Thr123=
XR_242246.3:n.1089A>C
XM_017012319.2:c.-674A>C
XP_016867808.1:n.-674A>C
XR_001744808.2:n.103A>C
XR_242246.5:n.1040A>C
NM_000466.3:c.993A>C
MANE Select
NP_000457.1:p.Thr331=
NM_001282677.2:c.993A>C
NP_001269606.1:p.Thr331=
NM_001282678.2:c.369A>C
NP_001269607.1:p.Thr123=