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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.92517525C>T , CM000669.2:g.92517525C>T
GRCh38
NC_000007.13:g.92146839C>T , CM000669.1:g.92146839C>T
GRCh37
NC_000007.12:g.91984775C>T
NCBI36
NG_008341.1:g.16007G>A
NG_008341.2:g.16007G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000248633.9:c.990G>A
MANE Select
ENSP00000248633.4:p.Val330=
ENST00000248633.8:c.990G>A
ENSP00000248633.4:p.Val330=
ENST00000428214.5:c.990G>A
ENSP00000394413.1:p.Val330=
ENST00000438045.5:c.274-3558G>A
ENSP00000410438.1:n.274-3558G>A
ENST00000484913.5:n.1029G>A
NM_000466.2:c.990G>A
NP_000457.1:p.Val330=
NM_001282677.1:c.990G>A
NP_001269606.1:p.Val330=
NM_001282678.1:c.366G>A
NP_001269607.1:p.Val122=
XR_242246.3:n.1086G>A
XM_017012319.2:c.-677G>A
XP_016867808.1:n.-677G>A
XR_001744808.2:n.100G>A
XR_242246.5:n.1037G>A
NM_000466.3:c.990G>A
MANE Select
NP_000457.1:p.Val330=
NM_001282677.2:c.990G>A
NP_001269606.1:p.Val330=
NM_001282678.2:c.366G>A
NP_001269607.1:p.Val122=