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Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28018476G>T , CM000675.2:g.28018476G>T
GRCh38
NC_000013.10:g.28592613G>T , CM000675.1:g.28592613G>T
GRCh37
NC_000013.9:g.27490613G>T
NCBI36
NG_007066.1:g.87093C>A , LRG_457:g.87093C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241453.12:c.2532C>A
MANE Select
ENSP00000241453.7:p.Val844=
ENST00000241453.11:c.2532C>A
ENSP00000241453.7:p.Val844=
ENST00000380987.2:c.*444C>A
ENSP00000370374.2:n.*444C>A
NM_004119.2:c.2532C>A , LRG_457t1:c.2532C>A
NP_004110.2:p.Val844=
NR_130706.1:n.2746C>A
XM_011535015.1:c.2475C>A
XP_011533317.1:p.Val825=
XM_011535016.1:c.2007C>A
XP_011533318.1:p.Val669=
XM_011535017.1:c.2007C>A
XP_011533319.1:p.Val669=
XM_011535018.1:c.2007C>A
XP_011533320.1:p.Val669=
XM_011535015.2:c.2475C>A
XP_011533317.1:p.Val825=
XM_011535017.2:c.2007C>A
XP_011533319.1:p.Val669=
XM_011535018.2:c.2007C>A
XP_011533320.1:p.Val669=
XM_017020486.1:c.2316C>A
XP_016875975.1:p.Val772=
XM_017020487.1:c.2007C>A
XP_016875976.1:p.Val669=
XM_017020488.1:c.1653C>A
XP_016875977.1:p.Val551=
XM_017020489.1:c.1635C>A
XP_016875978.1:p.Val545=
NM_004119.3:c.2532C>A
MANE Select
NP_004110.2:p.Val844=
NR_130706.2:n.2730C>A