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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96121855C>T , CM000669.2:g.96121855C>T
GRCh38
NC_000007.13:g.95751167C>T , CM000669.1:g.95751167C>T
GRCh37
NC_000007.12:g.95589103C>T
NCBI36
NG_012247.1:g.205293G>A
NG_012247.2:g.205293G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.1734G>A
MANE Select
ENSP00000265631.6:p.Leu578=
ENST00000265631.9:c.1734G>A
ENSP00000265631.5:p.Leu578=
ENST00000416240.6:c.1737G>A
ENSP00000400101.2:p.Leu579=
ENST00000494085.1:n.144G>A
NM_001160210.1:c.1737G>A
NP_001153682.1:p.Leu579=
NM_014251.2:c.1734G>A
NP_055066.1:p.Leu578=
NR_027662.1:n.1809G>A
XM_006715831.2:c.1767G>A
XP_006715894.1:p.Leu589=
XM_011515728.1:c.882G>A
XP_011514030.1:p.Leu294=
XM_006715831.4:c.1767G>A
XP_006715894.1:p.Leu589=
XM_017011663.1:c.1725G>A
XP_016867152.1:p.Leu575=
XM_017011664.2:c.882G>A
XP_016867153.1:p.Leu294=
XM_017011665.1:c.882G>A
XP_016867154.1:p.Leu294=
XR_001744525.2:n.1980G>A
XR_002956405.1:n.2538G>A
NM_014251.3:c.1734G>A
MANE Select
NP_055066.1:p.Leu578=
NR_027662.2:n.1760G>A
NM_001160210.2:c.1737G>A
NP_001153682.1:p.Leu579=