Canonical Allele Identifier: CA612440802

Gene:

Linked Data

• dbSNP Id: rs930584482
• gnomAD v2: 14-21261599-C-T
• gnomAD v3: 14-20793440-C-T
• gnomAD v4: 14-20793440-C-T
• MyVariant Identifiers: chr14:g.21261599C>T (hg19) ; chr14:g.20793440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20793440C>T , CM000676.2:g.20793440C>T	GRCh38
NC_000014.8:g.21261599C>T , CM000676.1:g.21261599C>T	GRCh37
NC_000014.7:g.20331439C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_943584.1:n.585+654C>T
XR_943585.1:n.585+654C>T
XR_001750620.1:n.3271+654C>T
XR_001750621.1:n.3271+654C>T
XR_001750622.1:n.637+6464G>A
XR_001750623.1:n.637+6464G>A
XR_001750624.1:n.637+6464G>A