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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.139379757T>C , CM000667.2:g.139379757T>C
GRCh38
NC_000005.9:g.138715446T>C , CM000667.1:g.138715446T>C
GRCh37
NC_000005.8:g.138743345T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000348729.8:c.846A>G
MANE Select
ENSP00000302701.4:p.Lys282=
ENST00000348729.7:c.846A>G
ENSP00000302701.4:p.Lys282=
ENST00000353963.7:c.858A>G
ENSP00000302851.5:p.Lys286=
ENST00000504513.1:c.164+199A>G
ENST00000506512.1:n.457A>G
NM_005847.4:c.846A>G
NP_005838.3:p.Lys282=
NM_152685.3:c.858A>G
NP_689898.2:p.Lys286=
XM_005272148.3:c.966A>G
XP_005272205.3:p.Lys322=
XM_005272149.3:c.954A>G
XP_005272206.3:p.Lys318=
XM_006714741.2:c.966A>G
XP_006714804.2:p.Lys322=
XM_011543765.1:c.966A>G
XP_011542067.1:p.Lys322=
XM_011543766.1:c.747A>G
XP_011542068.1:p.Lys249=
XM_011543767.1:c.651A>G
XP_011542069.1:p.Lys217=
XM_011543768.1:c.531A>G
XP_011542070.1:p.Lys177=
XM_011543769.1:c.141A>G
XP_011542071.1:p.Lys47=
XM_005272149.4:c.954A>G
XP_005272206.3:p.Lys318=
XM_011543765.2:c.966A>G
XP_011542067.1:p.Lys322=
NM_005847.5:c.846A>G
MANE Select
NP_005838.3:p.Lys282=
NM_152685.4:c.858A>G
NP_689898.2:p.Lys286=