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Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28018575G>A , CM000675.2:g.28018575G>A
GRCh38
NC_000013.10:g.28592712G>A , CM000675.1:g.28592712G>A
GRCh37
NC_000013.9:g.27490712G>A
NCBI36
NG_007066.1:g.86994C>T , LRG_457:g.86994C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241453.12:c.2433C>T
MANE Select
ENSP00000241453.7:p.Asp811=
ENST00000241453.11:c.2433C>T
ENSP00000241453.7:p.Asp811=
ENST00000380987.2:c.*345C>T
ENSP00000370374.2:n.*345C>T
NM_004119.2:c.2433C>T , LRG_457t1:c.2433C>T
NP_004110.2:p.Asp811=
NR_130706.1:n.2647C>T
XM_011535015.1:c.2376C>T
XP_011533317.1:p.Asp792=
XM_011535016.1:c.1908C>T
XP_011533318.1:p.Asp636=
XM_011535017.1:c.1908C>T
XP_011533319.1:p.Asp636=
XM_011535018.1:c.1908C>T
XP_011533320.1:p.Asp636=
XM_011535015.2:c.2376C>T
XP_011533317.1:p.Asp792=
XM_011535017.2:c.1908C>T
XP_011533319.1:p.Asp636=
XM_011535018.2:c.1908C>T
XP_011533320.1:p.Asp636=
XM_017020486.1:c.2217C>T
XP_016875975.1:p.Asp739=
XM_017020487.1:c.1908C>T
XP_016875976.1:p.Asp636=
XM_017020488.1:c.1554C>T
XP_016875977.1:p.Asp518=
XM_017020489.1:c.1536C>T
XP_016875978.1:p.Asp512=
NM_004119.3:c.2433C>T
MANE Select
NP_004110.2:p.Asp811=
NR_130706.2:n.2631C>T