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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.43875148C>T , CM000664.2:g.43875148C>T
GRCh38
NC_000002.11:g.44102287C>T , CM000664.1:g.44102287C>T
GRCh37
NC_000002.10:g.43955791C>T
NCBI36
NG_008884.1:g.41185C>T
NG_008884.2:g.48207C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000272286.4:c.1491C>T
MANE Select
ENSP00000272286.2:p.Ile497=
ENST00000272286.2:c.1491C>T
ENSP00000272286.2:p.Ile497=
NM_022437.2:c.1491C>T
NP_071882.1:p.Ile497=
XM_005264483.2:c.1488C>T
XP_005264540.1:p.Ile496=
XM_011533029.1:c.1503C>T
XP_011531331.1:p.Ile501=
XM_011533030.1:c.1500C>T
XP_011531332.1:p.Ile500=
XM_011533031.1:c.1275C>T
XP_011531333.1:p.Ile425=
XR_939707.1:n.1993C>T
NM_001357321.1:c.1488C>T
NP_001344250.1:p.Ile496=
XM_011533029.2:c.1503C>T
XP_011531331.1:p.Ile501=
XM_011533030.2:c.1500C>T
XP_011531332.1:p.Ile500=
XR_001738891.1:n.2007C>T
XR_939707.2:n.2007C>T
NM_022437.3:c.1491C>T
MANE Select
NP_071882.1:p.Ile497=
NM_001357321.2:c.1488C>T
NP_001344250.1:p.Ile496=