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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113932459G= , CM000673.2:g.113932459G=
GRCh38
NC_000011.9:g.113803181G= , CM000673.1:g.113803181G=
GRCh37
NC_000011.8:g.113308391G=
NCBI36
NG_011483.1:g.32593G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000260191.8:c.538+1G=
MANE Select
ENSP00000260191.2:n.538+1G=
ENST00000260191.7:c.538+1G=
ENSP00000260191.2:n.538+1G=
ENST00000260191.6:c.538+1G=
ENSP00000260191.2:n.538+1G=
ENST00000537778.5:c.505+1G=
ENSP00000443118.1:n.505+1G=
ENST00000543092.1:c.324+1G=
NM_006028.4:c.538+1G=
NP_006019.1:n.538+1G=
XM_011543063.1:c.505+1G=
XP_011541365.1:n.505+1G=
XM_011543064.1:c.337+1G=
XP_011541366.1:n.337+1G=
XM_011543065.1:c.331+1G=
XP_011541367.1:n.331+1G=
XM_011543066.1:c.505+1G=
XP_011541368.1:n.505+1G=
NM_001363563.1:c.505+1G=
NP_001350492.1:n.505+1G=
XM_017018552.2:c.331+1G=
XP_016874041.1:n.331+1G=
XM_024448767.1:c.244+1G=
XP_024304535.1:n.244+1G=
XR_001748034.2:n.789+1G=
NM_001363563.2:c.505+1G=
NP_001350492.1:n.505+1G=
NM_006028.5:c.538+1G=
MANE Select
NP_006019.1:n.538+1G=