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Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28018467A= , CM000675.2:g.28018467A=
GRCh38
NC_000013.10:g.28592604A= , CM000675.1:g.28592604A=
GRCh37
NC_000013.9:g.27490604A=
NCBI36
NG_007066.1:g.87102T= , LRG_457:g.87102T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241453.12:c.2541T=
MANE Select
ENSP00000241453.7:p.Asn847=
ENST00000241453.11:c.2541T=
ENSP00000241453.7:p.Asn847=
ENST00000380987.2:c.*453T=
ENSP00000370374.2:n.*453T=
NM_004119.2:c.2541T= , LRG_457t1:c.2541T=
NP_004110.2:p.Asn847=
NR_130706.1:n.2755T=
XM_011535015.1:c.2484T=
XP_011533317.1:p.Asn828=
XM_011535016.1:c.2016T=
XP_011533318.1:p.Asn672=
XM_011535017.1:c.2016T=
XP_011533319.1:p.Asn672=
XM_011535018.1:c.2016T=
XP_011533320.1:p.Asn672=
XM_011535015.2:c.2484T=
XP_011533317.1:p.Asn828=
XM_011535017.2:c.2016T=
XP_011533319.1:p.Asn672=
XM_011535018.2:c.2016T=
XP_011533320.1:p.Asn672=
XM_017020486.1:c.2325T=
XP_016875975.1:p.Asn775=
XM_017020487.1:c.2016T=
XP_016875976.1:p.Asn672=
XM_017020488.1:c.1662T=
XP_016875977.1:p.Asn554=
XM_017020489.1:c.1644T=
XP_016875978.1:p.Asn548=
NM_004119.3:c.2541T=
MANE Select
NP_004110.2:p.Asn847=
NR_130706.2:n.2739T=