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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.92517480T>C , CM000669.2:g.92517480T>C
GRCh38
NC_000007.13:g.92146794T>C , CM000669.1:g.92146794T>C
GRCh37
NC_000007.12:g.91984730T>C
NCBI36
NG_008341.1:g.16052A>G
NG_008341.2:g.16052A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000248633.9:c.1035A>G
MANE Select
ENSP00000248633.4:p.Gln345=
ENST00000248633.8:c.1035A>G
ENSP00000248633.4:p.Gln345=
ENST00000428214.5:c.1035A>G
ENSP00000394413.1:p.Gln345=
ENST00000438045.5:c.274-3513A>G
ENSP00000410438.1:n.274-3513A>G
ENST00000484913.5:n.1074A>G
NM_000466.2:c.1035A>G
NP_000457.1:p.Gln345=
NM_001282677.1:c.1035A>G
NP_001269606.1:p.Gln345=
NM_001282678.1:c.411A>G
NP_001269607.1:p.Gln137=
XR_242246.3:n.1131A>G
XM_017012319.2:c.-632A>G
XP_016867808.1:n.-632A>G
XR_001744808.2:n.145A>G
XR_242246.5:n.1082A>G
NM_000466.3:c.1035A>G
MANE Select
NP_000457.1:p.Gln345=
NM_001282677.2:c.1035A>G
NP_001269606.1:p.Gln345=
NM_001282678.2:c.411A>G
NP_001269607.1:p.Gln137=