Canonical Allele Identifier: CA144309887

Gene:

Linked Data

• dbSNP Id: rs12529874
• gnomAD v2: 6-98462501-G-A
• gnomAD v3: 6-98014625-G-A
• gnomAD v4: 6-98014625-G-A
• MyVariant Identifiers: chr6:g.98462501G>A (hg19) ; chr6:g.98014625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98014625G>A , CM000668.2:g.98014625G>A	GRCh38
NC_000006.11:g.98462501G>A , CM000668.1:g.98462501G>A	GRCh37
NC_000006.10:g.98569222G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_245563.2:n.371+45159G>A
XR_942809.1:n.371+45159G>A