Canonical Allele Identifier: CA960867025

Gene:

Linked Data

• dbSNP Id: rs936402031
• gnomAD v3: 14-20793486-T-C
• gnomAD v4: 14-20793486-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20793486T>C , CM000676.2:g.20793486T>C	GRCh38
NC_000014.8:g.21261645T>C , CM000676.1:g.21261645T>C	GRCh37
NC_000014.7:g.20331485T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943584.1:n.585+700T>C
XR_943585.1:n.585+700T>C
XR_001750620.1:n.3271+700T>C
XR_001750621.1:n.3271+700T>C
XR_001750622.1:n.637+6418A>G
XR_001750623.1:n.637+6418A>G
XR_001750624.1:n.637+6418A>G