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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.61392626C= , CM000673.2:g.61392626C=
GRCh38
NC_000011.9:g.61160098C= , CM000673.1:g.61160098C=
GRCh37
NC_000011.8:g.60916674C=
NCBI36
NG_032976.1:g.5267C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000334888.10:c.-6C=
ENSP00000334844.5:n.-6C=
ENST00000544795.6:n.40C=
ENST00000688959.1:c.-279C=
ENSP00000509213.1:n.-279C=
ENST00000690736.1:c.-6C=
ENSP00000508542.1:n.-6C=
ENST00000515837.7:c.-6C=
MANE Select
ENSP00000440638.1:n.-6C=
ENST00000334888.9:c.-6C=
ENSP00000334844.5:n.-6C=
ENST00000398979.7:c.-203C=
ENSP00000381950.3:n.-203C=
ENST00000515837.6:c.-6C=
ENSP00000440638.1:n.-6C=
NM_001173990.2:c.-6C=
NP_001167461.1:n.-6C=
NM_001173991.2:c.-6C=
NP_001167462.1:n.-6C=
NM_016499.5:c.-203C=
NP_057583.2:n.-203C=
XM_005274039.3:c.-337C=
XP_005274096.1:n.-337C=
NM_001330285.1:c.-203C=
NP_001317214.1:n.-203C=
XM_005274039.4:c.-337C=
XP_005274096.1:n.-337C=
NM_001173990.3:c.-6C=
MANE Select
NP_001167461.1:n.-6C=
NM_001173991.3:c.-6C=
NP_001167462.1:n.-6C=
NM_001330285.2:c.-203C=
NP_001317214.1:n.-203C=
NM_016499.6:c.-203C=
NP_057583.2:n.-203C=