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Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.13901375A>C , CM000667.2:g.13901375A>C
GRCh38
NC_000005.9:g.13901484A>C , CM000667.1:g.13901484A>C
GRCh37
NC_000005.8:g.13954484A>C
NCBI36
NG_013081.1:g.48106T>G
NG_013081.2:g.48106T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265104.5:c.1929T>G
MANE Select
ENSP00000265104.4:p.Leu643=
ENST00000681290.1:c.1884T>G
ENSP00000505288.1:p.Leu628=
ENST00000265104.4:c.1929T>G
ENSP00000265104.4:p.Leu643=
NM_001369.2:c.1929T>G
NP_001360.1:p.Leu643=
XM_005248262.2:c.1884T>G
XP_005248319.1:p.Leu628=
XM_011513990.1:c.1929T>G
XP_011512292.1:p.Leu643=
XR_925598.1:n.2136T>G
XM_005248262.3:c.2037T>G
XP_005248319.2:p.Leu679=
XM_017009177.1:c.2037T>G
XP_016864666.1:p.Leu679=
XM_017009178.1:c.942T>G
XP_016864667.1:p.Leu314=
XM_017009179.2:c.942T>G
XP_016864668.1:p.Leu314=
XM_017009180.1:c.2037T>G
XP_016864669.1:p.Leu679=
XM_017009181.1:c.2037T>G
XP_016864670.1:p.Leu679=
XM_017009182.1:c.2037T>G
XP_016864671.1:p.Leu679=
XM_017009183.1:c.2037T>G
XP_016864672.1:p.Leu679=
XM_017009184.1:c.2037T>G
XP_016864673.1:p.Leu679=
XM_017009187.1:c.2037T>G
XP_016864676.1:p.Leu679=
XM_024454388.1:c.942T>G
XP_024310156.1:p.Leu314=
XM_024454389.1:c.531T>G
XP_024310157.1:p.Leu177=
XR_001742034.1:n.2054T>G
XR_001742035.1:n.2054T>G
NM_001369.3:c.1929T>G
MANE Select
NP_001360.1:p.Leu643=