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Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.20253594G= , CM000670.2:g.20253594G=
GRCh38
NC_000008.10:g.20111105G= , CM000670.1:g.20111105G=
GRCh37
NC_000008.9:g.20155385G=
NCBI36
NG_015834.2:g.6699C=
NG_015834.3:g.55388C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265801.6:c.346-9C=
ENSP00000265801.6:n.346-9C=
ENST00000381569.5:c.346-9C=
MANE Select
ENSP00000370981.1:n.346-9C=
ENST00000522290.5:c.346-9C=
ENSP00000429263.1:n.346-9C=
ENST00000616228.1:c.157+1431C=
ENSP00000479534.1:n.157+1431C=
NM_021020.3:c.346-9C=
NP_066300.1:n.346-9C=
XM_005273394.3:c.346-9C=
XP_005273451.1:n.346-9C=
XM_011544383.1:c.346-9C=
XP_011542685.1:n.346-9C=
XM_011544384.1:c.346-9C=
XP_011542686.1:n.346-9C=
XM_011544385.1:c.346-9C=
XP_011542687.1:n.346-9C=
XM_011544386.1:c.346-9C=
XP_011542688.1:n.346-9C=
XM_011544387.1:c.346-9C=
XP_011542689.1:n.346-9C=
NM_001362884.1:c.346-9C=
NP_001349813.1:n.346-9C=
NM_021020.4:c.346-9C=
NP_066300.1:n.346-9C=
XM_011544384.2:c.346-9C=
XP_011542686.1:n.346-9C=
XM_011544385.2:c.346-9C=
XP_011542687.1:n.346-9C=
XM_011544386.2:c.346-9C=
XP_011542688.1:n.346-9C=
NM_021020.5:c.346-9C=
MANE Select
NP_066300.1:n.346-9C=
NM_001362884.2:c.346-9C=
NP_001349813.1:n.346-9C=