Canonical Allele Identifier: CA570684212

Gene:

Linked Data

• dbSNP Id: rs1398457533
• gnomAD v2: 6-134720016-C-T
• gnomAD v3: 6-134398878-C-T
• gnomAD v4: 6-134398878-C-T
• MyVariant Identifiers: chr6:g.134720016C>T (hg19) ; chr6:g.134398878C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.134398878C>T , CM000668.2:g.134398878C>T	GRCh38
NC_000006.11:g.134720016C>T , CM000668.1:g.134720016C>T	GRCh37
NC_000006.10:g.134761709C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_428023.2:n.23+149C>T