Canonical Allele Identifier: CA691969107
Gene:

Linked Data

dbSNP Id: rs1186709511
gnomAD v3: 12-76004885-G-A
gnomAD v4: 12-76004885-G-A
MyVariant Identifiers: chr12:g.76398665G>A (hg19) chr12:g.76004885G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76004885G>A , CM000674.2:g.76004885G>A GRCh38
NC_000012.11:g.76398665G>A , CM000674.1:g.76398665G>A GRCh37
NC_000012.10:g.74684932G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_945110.1:n.311+1304C>T
XR_001749218.2:n.402+1304C>T
XR_945110.3:n.402+1304C>T
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