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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.81629776C= , CM000679.2:g.81629776C=
GRCh38
NC_000017.10:g.79596802C= , CM000679.1:g.79596802C=
GRCh37
NC_000017.9:g.77207207C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000705719.1:c.174G=
ENSP00000516165.1:p.Val58=
ENST00000331134.11:c.45G=
MANE Select
ENSP00000331487.5:p.Val15=
ENST00000331134.10:c.45G=
ENSP00000331487.5:p.Val15=
ENST00000374747.9:c.45G=
ENSP00000363879.5:p.Val15=
ENST00000570300.1:n.66G=
ENST00000574897.5:c.45G=
ENSP00000461543.1:p.Val15=
ENST00000625705.1:c.42G=
ENSP00000486640.1:p.Val14=
NM_017921.3:c.45G=
NP_060391.2:p.Val15=
XM_011524979.1:c.45G=
XP_011523281.1:p.Val15=
XM_011524980.1:c.45G=
XP_011523282.1:p.Val15=
XM_011524981.1:c.45G=
XP_011523283.1:p.Val15=
XM_011524982.1:c.45G=
XP_011523284.1:p.Val15=
XR_934501.1:n.263G=
XR_934502.1:n.263G=
XM_011524982.2:c.45G=
XP_011523284.1:p.Val15=
XR_001752557.1:n.263G=
NM_017921.4:c.45G=
MANE Select
NP_060391.2:p.Val15=
NM_001369698.1:c.45G=
NP_001356627.1:p.Val15=