Canonical Allele Identifier: CA1035662783

Gene:

Linked Data

• dbSNP Id: rs1690915811
• gnomAD v3: 2-120332323-T-C
• gnomAD v4: 2-120332323-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120332323T>C , CM000664.2:g.120332323T>C	GRCh38
NC_000002.11:g.121089899T>C , CM000664.1:g.121089899T>C	GRCh37
NC_000002.10:g.120806369T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512307.1:c.141+3517T>C	XP_011510609.1:n.141+3517T>C