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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.15424411A>G , CM000664.2:g.15424411A>G
GRCh38
NC_000002.11:g.15564535A>G , CM000664.1:g.15564535A>G
GRCh37
NC_000002.10:g.15481986A>G
NCBI36
NG_032964.1:g.141938T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000700061.1:c.578T>C
ENST00000700062.1:c.578T>C
ENST00000700065.1:n.2494T>C
ENST00000700066.1:c.1998T>C
ENSP00000514780.1:p.Pro666=
ENST00000281513.10:c.2481T>C
MANE Select
ENSP00000281513.5:p.Pro827=
ENST00000281513.9:c.2481T>C
ENSP00000281513.5:p.Pro827=
NM_015909.3:c.2481T>C
NP_056993.2:p.Pro827=
NR_052013.2:n.2525T>C
XM_011510357.1:c.2352T>C
XP_011508659.1:p.Pro784=
XM_011510358.1:c.2481T>C
XP_011508660.1:p.Pro827=
XM_011510359.1:c.1842T>C
XP_011508661.1:p.Pro614=
XM_011510360.1:c.282T>C
XP_011508662.1:p.Pro94=
XM_011510361.1:c.273T>C
XP_011508663.1:p.Pro91=
XM_011510357.2:c.2352T>C
XP_011508659.1:p.Pro784=
XM_011510358.2:c.2481T>C
XP_011508660.1:p.Pro827=
XM_011510360.2:c.282T>C
XP_011508662.1:p.Pro94=
XM_011510361.2:c.273T>C
XP_011508663.1:p.Pro91=
XM_017004317.1:c.2481T>C
XP_016859806.1:p.Pro827=
XM_024452961.1:c.1842T>C
XP_024308729.1:p.Pro614=
NM_015909.4:c.2481T>C
MANE Select
NP_056993.2:p.Pro827=
NR_052013.3:n.2511T>C