Canonical Allele Identifier: CA12939984
Gene: GGH HGNC NCBI
dbSNP:
11545076
gnomAD v2:
8:63951451 A / C
gnomAD v3:
8:63038892 A / C
gnomAD v4:
chr8-63038892-A-C
Joint Max Group AF 0.25956502 (NFE)
Genomes Max Group AF 0.2871548 (SAS)
Exomes Max Group AF 0.25292992 (NFE)
MyVariant.info:
GRCh38 chr8:g.63038892A>C
GRCh37 chr8:g.63951451A>C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038892A>C , CM000670.2:g.63038892A>C GRCh38
NC_000008.10:g.63951451A>C , CM000670.1:g.63951451A>C GRCh37
NC_000008.9:g.64114005A>C NCBI36
NG_028126.1:g.5160T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.516T>G
ENST00000679326.1:c.-124T>G ENSP00000504262.1:n.-124T>G
ENST00000260118.6:c.-124T>G ENSP00000260118.6:n.-124T>G
NM_003878.2:c.-124T>G NP_003869.1:n.-124T>G
XM_011517623.1:c.-124T>G XP_011515925.1:n.-124T>G
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