Canonical Allele Identifier: CA99074808
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs16847024
gnomAD v2: 4-72650679-C-T
gnomAD v3: 4-71784962-C-T
gnomAD v4: 4-71784962-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71784962C>T , CM000666.2:g.71784962C>T GRCh38
NC_000004.11:g.72650679C>T , CM000666.1:g.72650679C>T GRCh37
NC_000004.10:g.72869543C>T NCBI36
NG_012837.2:g.25559G>A
NG_012837.3:g.25559G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000504199.5:c.22-908G>A ENSP00000421725.1:n.22-908G>A
ENST00000506245.1:c.-36-908G>A ENSP00000426718.1:n.-36-908G>A
NM_001204306.1:c.-36-908G>A NP_001191235.1:n.-36-908G>A
NM_001204307.1:c.22-908G>A NP_001191236.1:n.22-908G>A