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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.5641244A>T , CM000669.2:g.5641244A>T
GRCh38
NC_000007.13:g.5680875A>T , CM000669.1:g.5680875A>T
GRCh37
NC_000007.12:g.5647401A>T
NCBI36
NG_029374.1:g.145487T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000389902.8:c.2292T>A
MANE Select
ENSP00000374552.3:p.Ile764=
ENST00000389900.8:c.*1409T>A
ENSP00000374550.4:n.*1409T>A
ENST00000389902.7:c.2292T>A
ENSP00000374552.3:p.Ile764=
ENST00000425013.6:c.2121T>A
ENSP00000404602.2:p.Ile707=
ENST00000469375.1:n.509T>A
NM_207111.3:c.2292T>A
NP_996994.1:p.Ile764=
NM_207116.2:c.2121T>A
NP_996999.1:p.Ile707=
XM_005249785.2:c.2292T>A
XP_005249842.1:p.Ile764=
XM_006715748.1:c.987T>A
XP_006715811.1:p.Ile329=
XM_011515434.1:c.2292T>A
XP_011513736.1:p.Ile764=
XM_011515436.1:c.987T>A
XP_011513738.1:p.Ile329=
XM_011515436.2:c.987T>A
XP_011513738.1:p.Ile329=
XM_017012363.2:c.2121T>A
XP_016867852.1:p.Ile707=
XM_024446805.1:c.2292T>A
XP_024302573.1:p.Ile764=
XM_024446806.1:c.987T>A
XP_024302574.1:p.Ile329=
XM_024446807.1:c.987T>A
XP_024302575.1:p.Ile329=
NM_001377156.1:c.2121T>A
NP_001364085.1:p.Ile707=
NM_207111.4:c.2292T>A
MANE Select
NP_996994.1:p.Ile764=
NM_207116.3:c.2121T>A
NP_996999.1:p.Ile707=