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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.111911730C= , CM000673.2:g.111911730C=
GRCh38
NC_000011.9:g.111782454C= , CM000673.1:g.111782454C=
GRCh37
NC_000011.8:g.111287664C=
NCBI36
NG_009824.2:g.16993G=
NG_033080.1:g.3995C=
NG_009824.3:g.16993G=
NG_033080.2:g.3995C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000526180.6:c.-6G=
ENSP00000436051.1:n.-6G=
ENST00000527899.6:c.-6G=
ENSP00000436089.2:n.-6G=
ENST00000533475.6:c.-6G=
ENSP00000433560.1:n.-6G=
ENST00000533879.2:c.-6G=
ENSP00000435931.2:n.-6G=
ENST00000533971.2:c.-6G=
ENSP00000434269.1:n.-6G=
ENST00000616970.5:c.-6G=
ENSP00000483554.1:n.-6G=
ENST00000650687.2:c.-6G=
MANE Select
ENSP00000499082.1:n.-6G=
ENST00000651164.1:c.-6G=
ENSP00000498735.1:n.-6G=
ENST00000652223.1:n.307G=
ENST00000652606.1:n.239G=
ENST00000227251.7:c.-6G=
ENSP00000227251.3:n.-6G=
ENST00000526180.5:c.-6G=
ENSP00000436051.1:n.-6G=
ENST00000527899.5:c.-6G=
ENSP00000436089.1:n.-6G=
ENST00000527950.5:c.-6G=
ENSP00000437149.1:n.-6G=
ENST00000528628.5:c.-6G=
ENSP00000432182.1:n.-6G=
ENST00000529647.5:c.-6G=
ENSP00000431754.1:n.-6G=
ENST00000531198.5:c.-6G=
ENSP00000434247.1:n.-6G=
ENST00000533475.5:c.-6G=
ENSP00000433560.1:n.-6G=
ENST00000533879.1:c.-6G=
ENSP00000435931.1:n.-6G=
ENST00000533971.1:c.-6G=
ENSP00000434269.1:n.-6G=
ENST00000616970.4:c.-6G=
ENSP00000483554.1:n.-6G=
NM_001289807.1:c.-6G=
NP_001276736.1:n.-6G=
NM_001289808.1:c.-6G=
NP_001276737.1:n.-6G=
NM_001885.2:c.-6G=
NP_001876.1:n.-6G=
XM_011542608.1:c.-6G=
XP_011540910.1:n.-6G=
NM_001289808.2:c.-6G=
MANE Select
NP_001276737.1:n.-6G=
NM_001368245.1:c.-6G=
NP_001355174.1:n.-6G=
NM_001885.3:c.-6G=
NP_001876.1:n.-6G=