Canonical Allele Identifier: CA99074812
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs567552131
gnomAD v2: 4-72650735-A-C
gnomAD v3: 4-71785018-A-C
gnomAD v4: 4-71785018-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71785018A>C , CM000666.2:g.71785018A>C GRCh38
NC_000004.11:g.72650735A>C , CM000666.1:g.72650735A>C GRCh37
NC_000004.10:g.72869599A>C NCBI36
NG_012837.2:g.25503T>G
NG_012837.3:g.25503T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000504199.5:c.22-964T>G ENSP00000421725.1:n.22-964T>G
ENST00000506245.1:c.-37+902T>G ENSP00000426718.1:n.-37+902T>G
NM_001204306.1:c.-36-964T>G NP_001191235.1:n.-36-964T>G
NM_001204307.1:c.22-964T>G NP_001191236.1:n.22-964T>G