Canonical Allele Identifier: CA734382552

Gene:

Linked Data

• dbSNP Id: rs1183226320
• MyVariant Identifiers: chr1:g.2498878G>C (hg19) ; chr1:g.2567439G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2567439G>C , CM000663.2:g.2567439G>C	GRCh38
NC_000001.10:g.2498878G>C , CM000663.1:g.2498878G>C	GRCh37
NC_000001.9:g.2475540C>G	NCBI36
NG_047096.1:g.16075G>C

Transcript Alleles

HGVS	Amino-acid Change
NR_121638.1:n.71+834G>C