Canonical Allele Identifier: CA16449284
Gene:

Linked Data

dbSNP Id: rs2367446
gnomAD v2: 12-76398733-T-C
gnomAD v3: 12-76004953-T-C
gnomAD v4: 12-76004953-T-C
MyVariant Identifiers: chr12:g.76398733T>C (hg19) chr12:g.76004953T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76004953T>C , CM000674.2:g.76004953T>C GRCh38
NC_000012.11:g.76398733T>C , CM000674.1:g.76398733T>C GRCh37
NC_000012.10:g.74685000T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_945110.1:n.311+1236A>G
XR_001749218.2:n.402+1236A>G
XR_945110.3:n.402+1236A>G
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