Canonical Allele Identifier: CA144319781

Gene:

Linked Data

• dbSNP Id: rs551175776
• gnomAD v2: 6-98550321-A-C
• gnomAD v3: 6-98102445-A-C
• gnomAD v4: 6-98102445-A-C
• MyVariant Identifiers: chr6:g.98550321A>C (hg19) ; chr6:g.98102445A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98102445A>C , CM000668.2:g.98102445A>C	GRCh38
NC_000006.11:g.98550321A>C , CM000668.1:g.98550321A>C	GRCh37
NC_000006.10:g.98657042A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_245563.2:n.456+3175A>C
XR_942809.1:n.456+3175A>C