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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.156344564A= , CM000667.2:g.156344564A=
GRCh38
NC_000005.9:g.155771574A= , CM000667.1:g.155771574A=
GRCh37
NC_000005.8:g.155704152A=
NCBI36
NG_008693.2:g.479221A= , LRG_205:g.479221A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000337851.9:c.79A=
MANE Select
ENSP00000338343.4:p.Ile27=
ENST00000337851.8:c.79A=
ENSP00000338343.4:p.Ile27=
ENST00000435422.7:c.76A=
ENSP00000403003.2:p.Ile26=
ENST00000517913.5:c.79A=
ENSP00000429378.1:p.Ile27=
ENST00000524347.2:c.79A=
ENSP00000430794.1:p.Ile27=
NM_000337.5:c.79A= , LRG_205t1:c.79A=
NP_000328.2:p.Ile27=
NM_001128209.1:c.76A=
NP_001121681.1:p.Ile26=
NM_172244.2:c.79A=
NP_758447.1:p.Ile27=
XM_005265966.3:c.79A=
XP_005266023.1:p.Ile27=
XM_005265967.1:c.79A=
XP_005266024.1:p.Ile27=
XM_006714911.2:c.79A=
XP_006714974.1:p.Ile27=
XM_011534621.1:c.76A=
XP_011532923.1:p.Ile26=
XR_941123.1:n.254+2889T=
XM_005265966.5:c.79A=
XP_005266023.1:p.Ile27=
XM_005265967.2:c.79A=
XP_005266024.1:p.Ile27=
XM_011534621.2:c.76A=
XP_011532923.1:p.Ile26=
XM_017009723.2:c.79A=
XP_016865212.1:p.Ile27=
XM_017009724.1:c.79A=
XP_016865213.1:p.Ile27=
NM_001128209.2:c.76A=
NP_001121681.1:p.Ile26=
NM_172244.3:c.79A=
NP_758447.1:p.Ile27=
NM_000337.6:c.79A=
MANE Select
NP_000328.2:p.Ile27=