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Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28018549G= , CM000675.2:g.28018549G=
GRCh38
NC_000013.10:g.28592686G= , CM000675.1:g.28592686G=
GRCh37
NC_000013.9:g.27490686G=
NCBI36
NG_007066.1:g.87020C= , LRG_457:g.87020C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241453.12:c.2459C=
MANE Select
ENSP00000241453.7:p.Thr820=
ENST00000241453.11:c.2459C=
ENSP00000241453.7:p.Thr820=
ENST00000380987.2:c.*371C=
ENSP00000370374.2:n.*371C=
NM_004119.2:c.2459C= , LRG_457t1:c.2459C=
NP_004110.2:p.Thr820=
NR_130706.1:n.2673C=
XM_011535015.1:c.2402C=
XP_011533317.1:p.Thr801=
XM_011535016.1:c.1934C=
XP_011533318.1:p.Thr645=
XM_011535017.1:c.1934C=
XP_011533319.1:p.Thr645=
XM_011535018.1:c.1934C=
XP_011533320.1:p.Thr645=
XM_011535015.2:c.2402C=
XP_011533317.1:p.Thr801=
XM_011535017.2:c.1934C=
XP_011533319.1:p.Thr645=
XM_011535018.2:c.1934C=
XP_011533320.1:p.Thr645=
XM_017020486.1:c.2243C=
XP_016875975.1:p.Thr748=
XM_017020487.1:c.1934C=
XP_016875976.1:p.Thr645=
XM_017020488.1:c.1580C=
XP_016875977.1:p.Thr527=
XM_017020489.1:c.1562C=
XP_016875978.1:p.Thr521=
NM_004119.3:c.2459C=
MANE Select
NP_004110.2:p.Thr820=
NR_130706.2:n.2657C=