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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.15424426C= , CM000664.2:g.15424426C=
GRCh38
NC_000002.11:g.15564550C= , CM000664.1:g.15564550C=
GRCh37
NC_000002.10:g.15482001C=
NCBI36
NG_032964.1:g.141923G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000700061.1:c.563G=
ENST00000700062.1:c.563G=
ENST00000700065.1:n.2479G=
ENST00000700066.1:c.1983G=
ENSP00000514780.1:p.Leu661=
ENST00000281513.10:c.2466G=
MANE Select
ENSP00000281513.5:p.Leu822=
ENST00000281513.9:c.2466G=
ENSP00000281513.5:p.Leu822=
NM_015909.3:c.2466G=
NP_056993.2:p.Leu822=
NR_052013.2:n.2510G=
XM_011510357.1:c.2337G=
XP_011508659.1:p.Leu779=
XM_011510358.1:c.2466G=
XP_011508660.1:p.Leu822=
XM_011510359.1:c.1827G=
XP_011508661.1:p.Leu609=
XM_011510360.1:c.267G=
XP_011508662.1:p.Leu89=
XM_011510361.1:c.258G=
XP_011508663.1:p.Leu86=
XM_011510357.2:c.2337G=
XP_011508659.1:p.Leu779=
XM_011510358.2:c.2466G=
XP_011508660.1:p.Leu822=
XM_011510360.2:c.267G=
XP_011508662.1:p.Leu89=
XM_011510361.2:c.258G=
XP_011508663.1:p.Leu86=
XM_017004317.1:c.2466G=
XP_016859806.1:p.Leu822=
XM_024452961.1:c.1827G=
XP_024308729.1:p.Leu609=
NM_015909.4:c.2466G=
MANE Select
NP_056993.2:p.Leu822=
NR_052013.3:n.2496G=