Canonical Allele Identifier: CA99074786
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs190399363
gnomAD v2: 4-72650604-C-G
gnomAD v3: 4-71784887-C-G
gnomAD v4: 4-71784887-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71784887C>G , CM000666.2:g.71784887C>G GRCh38
NC_000004.11:g.72650604C>G , CM000666.1:g.72650604C>G GRCh37
NC_000004.10:g.72869468C>G NCBI36
NG_012837.2:g.25634G>C
NG_012837.3:g.25634G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000504199.5:c.22-833G>C ENSP00000421725.1:n.22-833G>C
ENST00000506245.1:c.-36-833G>C ENSP00000426718.1:n.-36-833G>C
NM_001204306.1:c.-36-833G>C NP_001191235.1:n.-36-833G>C
NM_001204307.1:c.22-833G>C NP_001191236.1:n.22-833G>C