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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.108578072C= , CM000685.2:g.108578072C=
GRCh38
NC_000023.10:g.107821302C= , CM000685.1:g.107821302C=
GRCh37
NC_000023.9:g.107707958C=
NCBI36
NG_011977.1:g.143149C=
NG_011977.2:g.143149C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000328300.11:c.646-6C=
MANE Select
ENSP00000331902.7:n.646-6C=
ENST00000361603.7:c.646-6C=
ENSP00000354505.2:n.646-6C=
ENST00000328300.10:c.646-6C=
ENSP00000331902.6:n.646-6C=
ENST00000361603.6:c.646-6C=
ENSP00000354505.2:n.646-6C=
NM_000495.4:c.646-6C=
NP_000486.1:n.646-6C=
NM_033380.2:c.646-6C=
NP_203699.1:n.646-6C=
XM_005262070.2:c.646-6C=
XP_005262127.1:n.646-6C=
XM_005262072.3:c.646-6C=
XP_005262129.1:n.646-6C=
XM_006724616.2:c.646-6C=
XP_006724679.1:n.646-6C=
XM_011530849.1:c.322-6C=
XP_011529151.1:n.322-6C=
XM_011530850.1:c.646-6C=
XP_011529152.1:n.646-6C=
XM_011530849.2:c.661-6C=
XP_011529151.2:n.661-6C=
XM_017029259.2:c.661-6C=
XP_016884748.1:n.661-6C=
XM_017029260.1:c.661-6C=
XP_016884749.1:n.661-6C=
XM_017029261.1:c.661-6C=
XP_016884750.1:n.661-6C=
XM_017029262.2:c.661-6C=
XP_016884751.1:n.661-6C=
NM_000495.5:c.646-6C=
NP_000486.1:n.646-6C=
NM_033380.3:c.646-6C=
MANE Select
NP_203699.1:n.646-6C=