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Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.31265398G>T , CM000678.2:g.31265398G>T
GRCh38
NC_000016.9:g.31276719G>T , CM000678.1:g.31276719G>T
GRCh37
NC_000016.8:g.31184220G>T
NCBI36
NG_011719.1:g.10432G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000544665.9:c.138G>T
MANE Select
ENSP00000441691.3:p.Val46=
ENST00000648685.1:c.138G>T
ENSP00000496959.1:p.Val46=
ENST00000287497.12:c.138G>T
ENSP00000287497.8:p.Val46=
ENST00000544665.7:c.138G>T
ENSP00000441691.2:p.Val46=
NM_000632.3:c.138G>T
NP_000623.2:p.Val46=
NM_001145808.1:c.138G>T
NP_001139280.1:p.Val46=
XM_006721045.1:c.138G>T
XP_006721108.1:p.Val46=
XM_011545850.1:c.-78G>T
XP_011544152.1:n.-78G>T
XM_011545851.1:c.138G>T
XP_011544153.1:p.Val46=
XR_950796.1:n.228G>T
XM_011545850.2:c.-78G>T
XP_011544152.1:n.-78G>T
XM_011545851.2:c.138G>T
XP_011544153.1:p.Val46=
XM_017023216.1:c.138G>T
XP_016878705.1:p.Val46=
NM_000632.4:c.138G>T
MANE Select
NP_000623.2:p.Val46=
NM_001145808.2:c.138G>T
NP_001139280.1:p.Val46=