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Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28018554A= , CM000675.2:g.28018554A=
GRCh38
NC_000013.10:g.28592691A= , CM000675.1:g.28592691A=
GRCh37
NC_000013.9:g.27490691A=
NCBI36
NG_007066.1:g.87015T= , LRG_457:g.87015T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241453.12:c.2454T=
MANE Select
ENSP00000241453.7:p.Leu818=
ENST00000241453.11:c.2454T=
ENSP00000241453.7:p.Leu818=
ENST00000380987.2:c.*366T=
ENSP00000370374.2:n.*366T=
NM_004119.2:c.2454T= , LRG_457t1:c.2454T=
NP_004110.2:p.Leu818=
NR_130706.1:n.2668T=
XM_011535015.1:c.2397T=
XP_011533317.1:p.Leu799=
XM_011535016.1:c.1929T=
XP_011533318.1:p.Leu643=
XM_011535017.1:c.1929T=
XP_011533319.1:p.Leu643=
XM_011535018.1:c.1929T=
XP_011533320.1:p.Leu643=
XM_011535015.2:c.2397T=
XP_011533317.1:p.Leu799=
XM_011535017.2:c.1929T=
XP_011533319.1:p.Leu643=
XM_011535018.2:c.1929T=
XP_011533320.1:p.Leu643=
XM_017020486.1:c.2238T=
XP_016875975.1:p.Leu746=
XM_017020487.1:c.1929T=
XP_016875976.1:p.Leu643=
XM_017020488.1:c.1575T=
XP_016875977.1:p.Leu525=
XM_017020489.1:c.1557T=
XP_016875978.1:p.Leu519=
NM_004119.3:c.2454T=
MANE Select
NP_004110.2:p.Leu818=
NR_130706.2:n.2652T=