Canonical Allele Identifier: CA239298373
Gene:

Linked Data

dbSNP Id: rs145432024
gnomAD v2: 12-76398670-G-C
gnomAD v3: 12-76004890-G-C
gnomAD v4: 12-76004890-G-C
MyVariant Identifiers: chr12:g.76398670G>C (hg19) chr12:g.76004890G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76004890G>C , CM000674.2:g.76004890G>C GRCh38
NC_000012.11:g.76398670G>C , CM000674.1:g.76398670G>C GRCh37
NC_000012.10:g.74684937G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_945110.1:n.311+1299C>G
XR_001749218.2:n.402+1299C>G
XR_945110.3:n.402+1299C>G
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