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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96121741A>C , CM000669.2:g.96121741A>C
GRCh38
NC_000007.13:g.95751053A>C , CM000669.1:g.95751053A>C
GRCh37
NC_000007.12:g.95588989A>C
NCBI36
NG_012247.1:g.205407T>G
NG_012247.2:g.205407T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.1755T>G
MANE Select
ENSP00000265631.6:p.Arg585=
ENST00000265631.9:c.1755T>G
ENSP00000265631.5:p.Arg585=
ENST00000416240.6:c.1758T>G
ENSP00000400101.2:p.Arg586=
ENST00000494085.1:n.258T>G
NM_001160210.1:c.1758T>G
NP_001153682.1:p.Arg586=
NM_014251.2:c.1755T>G
NP_055066.1:p.Arg585=
NR_027662.1:n.1830T>G
XM_006715831.2:c.1788T>G
XP_006715894.1:p.Arg596=
XM_011515728.1:c.903T>G
XP_011514030.1:p.Arg301=
XM_006715831.4:c.1788T>G
XP_006715894.1:p.Arg596=
XM_017011663.1:c.1746T>G
XP_016867152.1:p.Arg582=
XM_017011664.2:c.903T>G
XP_016867153.1:p.Arg301=
XM_017011665.1:c.903T>G
XP_016867154.1:p.Arg301=
XR_001744525.2:n.2001T>G
XR_002956405.1:n.2559T>G
NM_014251.3:c.1755T>G
MANE Select
NP_055066.1:p.Arg585=
NR_027662.2:n.1781T>G
NM_001160210.2:c.1758T>G
NP_001153682.1:p.Arg586=