Canonical Allele Identifier: CA99074781
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs761569437
gnomAD v2: 4-72650595-A-G
gnomAD v3: 4-71784878-A-G
gnomAD v4: 4-71784878-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71784878A>G , CM000666.2:g.71784878A>G GRCh38
NC_000004.11:g.72650595A>G , CM000666.1:g.72650595A>G GRCh37
NC_000004.10:g.72869459A>G NCBI36
NG_012837.2:g.25643T>C
NG_012837.3:g.25643T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000504199.5:c.22-824T>C ENSP00000421725.1:n.22-824T>C
ENST00000506245.1:c.-36-824T>C ENSP00000426718.1:n.-36-824T>C
NM_001204306.1:c.-36-824T>C NP_001191235.1:n.-36-824T>C
NM_001204307.1:c.22-824T>C NP_001191236.1:n.22-824T>C