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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96121681T>C , CM000669.2:g.96121681T>C
GRCh38
NC_000007.13:g.95750993T>C , CM000669.1:g.95750993T>C
GRCh37
NC_000007.12:g.95588929T>C
NCBI36
NG_012247.1:g.205467A>G
NG_012247.2:g.205467A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.1815A>G
MANE Select
ENSP00000265631.6:p.Arg605=
ENST00000265631.9:c.1815A>G
ENSP00000265631.5:p.Arg605=
ENST00000416240.6:c.1818A>G
ENSP00000400101.2:p.Arg606=
ENST00000494085.1:n.318A>G
NM_001160210.1:c.1818A>G
NP_001153682.1:p.Arg606=
NM_014251.2:c.1815A>G
NP_055066.1:p.Arg605=
NR_027662.1:n.1890A>G
XM_006715831.2:c.1848A>G
XP_006715894.1:p.Arg616=
XM_011515728.1:c.963A>G
XP_011514030.1:p.Arg321=
XM_006715831.4:c.1848A>G
XP_006715894.1:p.Arg616=
XM_017011663.1:c.1806A>G
XP_016867152.1:p.Arg602=
XM_017011664.2:c.963A>G
XP_016867153.1:p.Arg321=
XM_017011665.1:c.963A>G
XP_016867154.1:p.Arg321=
XR_001744525.2:n.2061A>G
XR_002956405.1:n.2619A>G
NM_014251.3:c.1815A>G
MANE Select
NP_055066.1:p.Arg605=
NR_027662.2:n.1841A>G
NM_001160210.2:c.1818A>G
NP_001153682.1:p.Arg606=