Canonical Allele Identifier: CA133613583

Gene:

Linked Data

• dbSNP Id: rs953871231
• gnomAD v2: 6-1535797-C-T
• gnomAD v3: 6-1535562-C-T
• gnomAD v4: 6-1535562-C-T
• MyVariant Identifiers: chr6:g.1535797C>T (hg19) ; chr6:g.1535562C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1535562C>T , CM000668.2:g.1535562C>T	GRCh38
NC_000006.11:g.1535797C>T , CM000668.1:g.1535797C>T	GRCh37
NC_000006.10:g.1480796C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_427861.2:n.234+16784G>A
XR_926380.1:n.218-2894C>T
XR_926381.1:n.1108-2894C>T
XR_926382.1:n.235-6383G>A
XR_926384.1:n.200-6383G>A
XR_001743921.1:n.235-6407G>A
XR_427861.3:n.234+16784G>A
XR_926381.2:n.1123-2894C>T