Canonical Allele Identifier: CA962939628

Gene:

Linked Data

• dbSNP Id: rs1880000511
• gnomAD v3: 14-49067722-G-T
• gnomAD v4: 14-49067722-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49067722G>T , CM000676.2:g.49067722G>T	GRCh38
NC_000014.8:g.49534440G>T , CM000676.1:g.49534440G>T	GRCh37
NC_000014.7:g.48604190G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_943837.1:n.222+2070C>A
XR_943837.2:n.345+2070C>A