Canonical Allele Identifier: CA1929213467

Gene:

Linked Data

• dbSNP Id: rs1848184395
• gnomAD v4: 10-94762610-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94762610T>C , CM000672.2:g.94762610T>C	GRCh38
NC_000010.10:g.96522367T>C , CM000672.1:g.96522367T>C	GRCh37
NC_000010.9:g.96512357T>C	NCBI36
NG_008384.2:g.4905T>C
NG_008384.3:g.4930T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000464755.1:c.932-12448T>C	ENSP00000483243.1:n.932-12448T>C