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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96121675G>A , CM000669.2:g.96121675G>A
GRCh38
NC_000007.13:g.95750987G>A , CM000669.1:g.95750987G>A
GRCh37
NC_000007.12:g.95588923G>A
NCBI36
NG_012247.1:g.205473C>T
NG_012247.2:g.205473C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.1821C>T
MANE Select
ENSP00000265631.6:p.Phe607=
ENST00000265631.9:c.1821C>T
ENSP00000265631.5:p.Phe607=
ENST00000416240.6:c.1824C>T
ENSP00000400101.2:p.Phe608=
ENST00000494085.1:n.324C>T
NM_001160210.1:c.1824C>T
NP_001153682.1:p.Phe608=
NM_014251.2:c.1821C>T
NP_055066.1:p.Phe607=
NR_027662.1:n.1896C>T
XM_006715831.2:c.1854C>T
XP_006715894.1:p.Phe618=
XM_011515728.1:c.969C>T
XP_011514030.1:p.Phe323=
XM_006715831.4:c.1854C>T
XP_006715894.1:p.Phe618=
XM_017011663.1:c.1812C>T
XP_016867152.1:p.Phe604=
XM_017011664.2:c.969C>T
XP_016867153.1:p.Phe323=
XM_017011665.1:c.969C>T
XP_016867154.1:p.Phe323=
XR_001744525.2:n.2067C>T
XR_002956405.1:n.2625C>T
NM_014251.3:c.1821C>T
MANE Select
NP_055066.1:p.Phe607=
NR_027662.2:n.1847C>T
NM_001160210.2:c.1824C>T
NP_001153682.1:p.Phe608=