Canonical Allele Identifier: CA994936068

Gene:

Linked Data

• dbSNP Id: rs2011165459
• gnomAD v3: 19-28544808-T-C
• gnomAD v4: 19-28544808-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.28544808T>C , CM000681.2:g.28544808T>C	GRCh38
NC_000019.9:g.29035715T>C , CM000681.1:g.29035715T>C	GRCh37
NC_000019.8:g.33727555T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_110759.1:n.657-78028A>G
XR_243979.1:n.110-51785A>G