Canonical Allele Identifier: CA581992825
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs1464870450
gnomAD v2: 8-63951562-A-G
gnomAD v3: 8-63039003-A-G
gnomAD v4: 8-63039003-A-G
MyVariant Identifiers: chr8:g.63951562A>G (hg19) chr8:g.63039003A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63039003A>G , CM000670.2:g.63039003A>G GRCh38
NC_000008.10:g.63951562A>G , CM000670.1:g.63951562A>G GRCh37
NC_000008.9:g.64114116A>G NCBI36
NG_028126.1:g.5049T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.405T>C
ENST00000679326.1:c.-235T>C ENSP00000504262.1:n.-235T>C
ENST00000260118.6:c.-235T>C ENSP00000260118.6:n.-235T>C
NM_003878.2:c.-235T>C NP_003869.1:n.-235T>C
XM_011517623.1:c.-235T>C XP_011515925.1:n.-235T>C
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