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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.139379738G>T , CM000667.2:g.139379738G>T
GRCh38
NC_000005.9:g.138715427G>T , CM000667.1:g.138715427G>T
GRCh37
NC_000005.8:g.138743326G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000348729.8:c.865C>A
MANE Select
ENSP00000302701.4:p.Arg289=
ENST00000348729.7:c.865C>A
ENSP00000302701.4:p.Arg289=
ENST00000353963.7:c.877C>A
ENSP00000302851.5:p.Arg293=
ENST00000504513.1:c.164+218C>A
ENST00000506512.1:n.476C>A
NM_005847.4:c.865C>A
NP_005838.3:p.Arg289=
NM_152685.3:c.877C>A
NP_689898.2:p.Arg293=
XM_005272148.3:c.985C>A
XP_005272205.3:p.Arg329=
XM_005272149.3:c.973C>A
XP_005272206.3:p.Arg325=
XM_006714741.2:c.985C>A
XP_006714804.2:p.Arg329=
XM_011543765.1:c.985C>A
XP_011542067.1:p.Arg329=
XM_011543766.1:c.766C>A
XP_011542068.1:p.Arg256=
XM_011543767.1:c.670C>A
XP_011542069.1:p.Arg224=
XM_011543768.1:c.550C>A
XP_011542070.1:p.Arg184=
XM_011543769.1:c.160C>A
XP_011542071.1:p.Arg54=
XM_005272149.4:c.973C>A
XP_005272206.3:p.Arg325=
XM_011543765.2:c.985C>A
XP_011542067.1:p.Arg329=
NM_005847.5:c.865C>A
MANE Select
NP_005838.3:p.Arg289=
NM_152685.4:c.877C>A
NP_689898.2:p.Arg293=