Canonical Allele Identifier: CA581992827
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs1296219902
gnomAD v2: 8-63951607-T-C
gnomAD v3: 8-63039048-T-C
gnomAD v4: 8-63039048-T-C
MyVariant Identifiers: chr8:g.63951607T>C (hg19) chr8:g.63039048T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039048T>C , CM000670.2:g.63039048T>C GRCh38
NC_000008.10:g.63951607T>C , CM000670.1:g.63951607T>C GRCh37
NC_000008.9:g.64114161T>C NCBI36
NG_028126.1:g.5004A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.360A>G
ENST00000679326.1:c.-280A>G ENSP00000504262.1:n.-280A>G
ENST00000260118.6:c.-280A>G ENSP00000260118.6:n.-280A>G
NM_003878.2:c.-280A>G NP_003869.1:n.-280A>G
XM_011517623.1:c.-280A>G XP_011515925.1:n.-280A>G
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