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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.121854703C= , CM000666.2:g.121854703C=
GRCh38
NC_000004.11:g.122775858C= , CM000666.1:g.122775858C=
GRCh37
NC_000004.10:g.122995308C=
NCBI36
NG_009111.1:g.20785G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264499.9:c.718+1G=
MANE Select
ENSP00000264499.4:n.718+1G=
ENST00000264499.8:c.718+1G=
ENSP00000264499.4:n.718+1G=
ENST00000506636.1:c.718+1G=
ENSP00000423626.1:n.718+1G=
NM_018190.3:c.718+1G=
NP_060660.2:n.718+1G=
NM_176824.2:c.718+1G=
NP_789794.1:n.718+1G=
XM_005263106.2:c.721+1G=
XP_005263163.1:n.721+1G=
XM_011532079.1:c.766+1G=
XP_011530381.1:n.766+1G=
XM_011532080.1:c.763+1G=
XP_011530382.1:n.763+1G=
XM_011532081.1:c.766+1G=
XP_011530383.1:n.766+1G=
XM_005263106.4:c.721+1G=
XP_005263163.1:n.721+1G=
XM_011532079.3:c.766+1G=
XP_011530381.1:n.766+1G=
XM_011532080.3:c.763+1G=
XP_011530382.1:n.763+1G=
XM_011532081.3:c.766+1G=
XP_011530383.1:n.766+1G=
XM_017008357.2:c.718+1G=
XP_016863846.1:n.718+1G=
XM_017008358.2:c.721+1G=
XP_016863847.1:n.721+1G=
NM_176824.3:c.718+1G=
MANE Select
NP_789794.1:n.718+1G=
NM_018190.4:c.718+1G=
NP_060660.2:n.718+1G=