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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.108577947C= , CM000685.2:g.108577947C=
GRCh38
NC_000023.10:g.107821177C= , CM000685.1:g.107821177C=
GRCh37
NC_000023.9:g.107707833C=
NCBI36
NG_011977.1:g.143024C=
NG_011977.2:g.143024C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000328300.11:c.610-5C=
MANE Select
ENSP00000331902.7:n.610-5C=
ENST00000361603.7:c.610-5C=
ENSP00000354505.2:n.610-5C=
ENST00000328300.10:c.610-5C=
ENSP00000331902.6:n.610-5C=
ENST00000361603.6:c.610-5C=
ENSP00000354505.2:n.610-5C=
NM_000495.4:c.610-5C=
NP_000486.1:n.610-5C=
NM_033380.2:c.610-5C=
NP_203699.1:n.610-5C=
XM_005262070.2:c.610-5C=
XP_005262127.1:n.610-5C=
XM_005262072.3:c.610-5C=
XP_005262129.1:n.610-5C=
XM_006724616.2:c.610-5C=
XP_006724679.1:n.610-5C=
XM_011530849.1:c.286-5C=
XP_011529151.1:n.286-5C=
XM_011530850.1:c.610-5C=
XP_011529152.1:n.610-5C=
XM_011530849.2:c.625-5C=
XP_011529151.2:n.625-5C=
XM_017029259.2:c.625-5C=
XP_016884748.1:n.625-5C=
XM_017029260.1:c.625-5C=
XP_016884749.1:n.625-5C=
XM_017029261.1:c.625-5C=
XP_016884750.1:n.625-5C=
XM_017029262.2:c.625-5C=
XP_016884751.1:n.625-5C=
NM_000495.5:c.610-5C=
NP_000486.1:n.610-5C=
NM_033380.3:c.610-5C=
MANE Select
NP_203699.1:n.610-5C=