Canonical Allele Identifier: CA995316525

Gene:

Linked Data

• dbSNP Id: rs1971154174
• gnomAD v3: 19-33521957-G-C
• gnomAD v4: 19-33521957-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521957G>C , CM000681.2:g.33521957G>C	GRCh38
NC_000019.9:g.34012863G>C , CM000681.1:g.34012863G>C	GRCh37
NC_000019.8:g.38704703G>C	NCBI36
NG_013358.1:g.4937C>G
NG_013358.2:g.4937C>G

Transcript Alleles

HGVS	Amino-acid Change
XR_935918.1:n.16G>C
XR_935919.1:n.11G>C
XR_001754035.2:n.24G>C
XR_935918.2:n.24G>C