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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.13901472T= , CM000667.2:g.13901472T=
GRCh38
NC_000005.9:g.13901581T= , CM000667.1:g.13901581T=
GRCh37
NC_000005.8:g.13954581T=
NCBI36
NG_013081.1:g.48009A=
NG_013081.2:g.48009A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265104.5:c.1832A=
MANE Select
ENSP00000265104.4:p.Lys611=
ENST00000681290.1:c.1787A=
ENSP00000505288.1:p.Lys596=
ENST00000265104.4:c.1832A=
ENSP00000265104.4:p.Lys611=
NM_001369.2:c.1832A=
NP_001360.1:p.Lys611=
XM_005248262.2:c.1787A=
XP_005248319.1:p.Lys596=
XM_011513990.1:c.1832A=
XP_011512292.1:p.Lys611=
XR_925598.1:n.2039A=
XM_005248262.3:c.1940A=
XP_005248319.2:p.Lys647=
XM_017009177.1:c.1940A=
XP_016864666.1:p.Lys647=
XM_017009178.1:c.845A=
XP_016864667.1:p.Lys282=
XM_017009179.2:c.845A=
XP_016864668.1:p.Lys282=
XM_017009180.1:c.1940A=
XP_016864669.1:p.Lys647=
XM_017009181.1:c.1940A=
XP_016864670.1:p.Lys647=
XM_017009182.1:c.1940A=
XP_016864671.1:p.Lys647=
XM_017009183.1:c.1940A=
XP_016864672.1:p.Lys647=
XM_017009184.1:c.1940A=
XP_016864673.1:p.Lys647=
XM_017009187.1:c.1940A=
XP_016864676.1:p.Lys647=
XM_024454388.1:c.845A=
XP_024310156.1:p.Lys282=
XM_024454389.1:c.434A=
XP_024310157.1:p.Lys145=
XR_001742034.1:n.1957A=
XR_001742035.1:n.1957A=
NM_001369.3:c.1832A=
MANE Select
NP_001360.1:p.Lys611=