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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.13901329T= , CM000667.2:g.13901329T=
GRCh38
NC_000005.9:g.13901438T= , CM000667.1:g.13901438T=
GRCh37
NC_000005.8:g.13954438T=
NCBI36
NG_013081.1:g.48152A=
NG_013081.2:g.48152A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265104.5:c.1975A=
MANE Select
ENSP00000265104.4:p.Ile659=
ENST00000681290.1:c.1930A=
ENSP00000505288.1:p.Ile644=
ENST00000265104.4:c.1975A=
ENSP00000265104.4:p.Ile659=
NM_001369.2:c.1975A=
NP_001360.1:p.Ile659=
XM_005248262.2:c.1930A=
XP_005248319.1:p.Ile644=
XM_011513990.1:c.1975A=
XP_011512292.1:p.Ile659=
XR_925598.1:n.2182A=
XM_005248262.3:c.2083A=
XP_005248319.2:p.Ile695=
XM_017009177.1:c.2083A=
XP_016864666.1:p.Ile695=
XM_017009178.1:c.988A=
XP_016864667.1:p.Ile330=
XM_017009179.2:c.988A=
XP_016864668.1:p.Ile330=
XM_017009180.1:c.2083A=
XP_016864669.1:p.Ile695=
XM_017009181.1:c.2083A=
XP_016864670.1:p.Ile695=
XM_017009182.1:c.2083A=
XP_016864671.1:p.Ile695=
XM_017009183.1:c.2083A=
XP_016864672.1:p.Ile695=
XM_017009184.1:c.2083A=
XP_016864673.1:p.Ile695=
XM_017009187.1:c.2083A=
XP_016864676.1:p.Ile695=
XM_024454388.1:c.988A=
XP_024310156.1:p.Ile330=
XM_024454389.1:c.577A=
XP_024310157.1:p.Ile193=
XR_001742034.1:n.2100A=
XR_001742035.1:n.2100A=
NM_001369.3:c.1975A=
MANE Select
NP_001360.1:p.Ile659=