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Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28018515T>G , CM000675.2:g.28018515T>G
GRCh38
NC_000013.10:g.28592652T>G , CM000675.1:g.28592652T>G
GRCh37
NC_000013.9:g.27490652T>G
NCBI36
NG_007066.1:g.87054A>C , LRG_457:g.87054A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241453.12:c.2493A>C
MANE Select
ENSP00000241453.7:p.Gly831=
ENST00000241453.11:c.2493A>C
ENSP00000241453.7:p.Gly831=
ENST00000380987.2:c.*405A>C
ENSP00000370374.2:n.*405A>C
NM_004119.2:c.2493A>C , LRG_457t1:c.2493A>C
NP_004110.2:p.Gly831=
NR_130706.1:n.2707A>C
XM_011535015.1:c.2436A>C
XP_011533317.1:p.Gly812=
XM_011535016.1:c.1968A>C
XP_011533318.1:p.Gly656=
XM_011535017.1:c.1968A>C
XP_011533319.1:p.Gly656=
XM_011535018.1:c.1968A>C
XP_011533320.1:p.Gly656=
XM_011535015.2:c.2436A>C
XP_011533317.1:p.Gly812=
XM_011535017.2:c.1968A>C
XP_011533319.1:p.Gly656=
XM_011535018.2:c.1968A>C
XP_011533320.1:p.Gly656=
XM_017020486.1:c.2277A>C
XP_016875975.1:p.Gly759=
XM_017020487.1:c.1968A>C
XP_016875976.1:p.Gly656=
XM_017020488.1:c.1614A>C
XP_016875977.1:p.Gly538=
XM_017020489.1:c.1596A>C
XP_016875978.1:p.Gly532=
NM_004119.3:c.2493A>C
MANE Select
NP_004110.2:p.Gly831=
NR_130706.2:n.2691A>C