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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.1887564G= , CM000673.2:g.1887564G=
GRCh38
NC_000011.9:g.1908794G= , CM000673.1:g.1908794G=
GRCh37
NC_000011.8:g.1865370G=
NCBI36
NG_011509.1:g.39595G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000311604.8:c.*1G=
MANE Select
ENSP00000308383.4:n.*1G=
ENST00000311604.7:c.*1G=
ENSP00000308383.3:n.*1G=
ENST00000381775.5:c.*1G=
ENSP00000371194.1:n.*1G=
ENST00000405957.6:c.*1G=
ENSP00000383932.2:n.*1G=
ENST00000406638.6:c.*1G=
ENSP00000384022.2:n.*1G=
ENST00000472974.5:n.891G=
ENST00000485341.5:n.1517G=
ENST00000612798.4:c.*1G=
ENSP00000484140.1:n.*1G=
NM_001013253.1:c.*1G=
NP_001013271.1:n.*1G=
NM_001013254.1:c.*1G=
NP_001013272.1:n.*1G=
NM_001013255.1:c.*1G=
NP_001013273.1:n.*1G=
NM_001242932.1:c.*1G=
NP_001229861.1:n.*1G=
NM_001289005.1:c.*1G=
NP_001275934.1:n.*1G=
NM_002339.2:c.*1G=
NP_002330.1:n.*1G=
NM_001013253.2:c.*1G=
NP_001013271.1:n.*1G=
NM_002339.3:c.*1G=
MANE Select
NP_002330.1:n.*1G=
NM_001242932.2:c.*1G=
NP_001229861.1:n.*1G=
NM_001289005.2:c.*1G=
NP_001275934.1:n.*1G=