Canonical Allele Identifier: CA16447880
Gene:

Linked Data

dbSNP Id: rs2227480
gnomAD v2: 12-68648342-G-A
gnomAD v3: 12-68254562-G-A
gnomAD v4: 12-68254562-G-A
MyVariant Identifiers: chr12:g.68648342G>A (hg19) chr12:g.68254562G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.68254562G>A , CM000674.2:g.68254562G>A GRCh38
NC_000012.11:g.68648342G>A , CM000674.1:g.68648342G>A GRCh37
NC_000012.10:g.66934609G>A NCBI36
NG_060763.1:g.4043C>T

Transcript Alleles

HGVS Amino-acid change
XR_945055.1:n.265-10096G>A
XR_002957418.1:n.281-10096G>A
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