Canonical Allele Identifier: CA307005682

Gene:

Linked Data

• dbSNP Id: rs950281816
• gnomAD v2: 19-29035503-G-A
• gnomAD v3: 19-28544596-G-A
• gnomAD v4: 19-28544596-G-A
• MyVariant Identifiers: chr19:g.29035503G>A (hg19) ; chr19:g.28544596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.28544596G>A , CM000681.2:g.28544596G>A	GRCh38
NC_000019.9:g.29035503G>A , CM000681.1:g.29035503G>A	GRCh37
NC_000019.8:g.33727343G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_110759.1:n.657-77816C>T
XR_243979.1:n.110-51573C>T