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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96121203A>G , CM000669.2:g.96121203A>G
GRCh38
NC_000007.13:g.95750515A>G , CM000669.1:g.95750515A>G
GRCh37
NC_000007.12:g.95588451A>G
NCBI36
NG_012247.1:g.205945T>C
NG_012247.2:g.205945T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.2016T>C
MANE Select
ENSP00000265631.6:p.Gly672=
ENST00000265631.9:c.2016T>C
ENSP00000265631.5:p.Gly672=
ENST00000416240.6:c.2019T>C
ENSP00000400101.2:p.Gly673=
ENST00000494085.1:n.519T>C
NM_001160210.1:c.2019T>C
NP_001153682.1:p.Gly673=
NM_014251.2:c.2016T>C
NP_055066.1:p.Gly672=
NR_027662.1:n.2091T>C
XM_006715831.2:c.2049T>C
XP_006715894.1:p.Gly683=
XM_011515728.1:c.1164T>C
XP_011514030.1:p.Gly388=
XM_006715831.4:c.2049T>C
XP_006715894.1:p.Gly683=
XM_017011663.1:c.2007T>C
XP_016867152.1:p.Gly669=
XM_017011664.2:c.1164T>C
XP_016867153.1:p.Gly388=
XM_017011665.1:c.1164T>C
XP_016867154.1:p.Gly388=
XR_001744525.2:n.2262T>C
XR_002956405.1:n.2820T>C
NM_014251.3:c.2016T>C
MANE Select
NP_055066.1:p.Gly672=
NR_027662.2:n.2042T>C
NM_001160210.2:c.2019T>C
NP_001153682.1:p.Gly673=