Canonical Allele Identifier: CA581992817
Gene: GGH HGNC NCBI

Linked Data

dbSNP Id: rs1443199630
gnomAD v2: 8-63951511-G-C
gnomAD v3: 8-63038952-G-C
gnomAD v4: 8-63038952-G-C
MyVariant Identifiers: chr8:g.63951511G>C (hg19) chr8:g.63038952G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63038952G>C , CM000670.2:g.63038952G>C GRCh38
NC_000008.10:g.63951511G>C , CM000670.1:g.63951511G>C GRCh37
NC_000008.9:g.64114065G>C NCBI36
NG_028126.1:g.5100C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000677327.1:n.456C>G
ENST00000679326.1:c.-184C>G ENSP00000504262.1:n.-184C>G
ENST00000260118.6:c.-184C>G ENSP00000260118.6:n.-184C>G
NM_003878.2:c.-184C>G NP_003869.1:n.-184C>G
XM_011517623.1:c.-184C>G XP_011515925.1:n.-184C>G
Search 100 bp 5'
Search 100 bp 3'