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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.80026695C= , CM000685.2:g.80026695C=
GRCh38
NC_000023.10:g.79282194C= , CM000685.1:g.79282194C=
GRCh37
NC_000023.9:g.79168850C=
NCBI36
NG_008998.1:g.16940C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373296.8:c.634-9C=
MANE Select
ENSP00000362393.3:n.634-9C=
ENST00000373294.8:c.634-9C=
ENSP00000362390.5:n.634-9C=
ENST00000373296.7:c.634-9C=
ENSP00000362393.3:n.634-9C=
ENST00000626498.2:c.*246-9C=
ENSP00000487527.1:n.*246-9C=
ENST00000626877.1:n.513-9C=
NM_001109878.1:c.634-9C=
NP_001103348.1:n.634-9C=
NM_001109879.1:c.274-9C=
NP_001103349.1:n.274-9C=
NM_001303475.1:c.274-9C=
NP_001290404.1:n.274-9C=
NM_016954.2:c.634-9C=
NP_058650.1:n.634-9C=
XM_005262136.2:c.637-9C=
XP_005262193.1:n.637-9C=
XM_006724657.2:c.637-9C=
XP_006724720.1:n.637-9C=
XM_011530972.1:c.274-9C=
XP_011529274.1:n.274-9C=
NM_001109878.2:c.634-9C=
MANE Select
NP_001103348.1:n.634-9C=
NM_001109879.2:c.274-9C=
NP_001103349.1:n.274-9C=