Canonical Allele Identifier: CA307575909

Gene:

Linked Data

• dbSNP Id: rs557625655
• gnomAD v2: 19-34012867-T-C
• gnomAD v3: 19-33521961-T-C
• gnomAD v4: 19-33521961-T-C
• MyVariant Identifiers: chr19:g.34012867T>C (hg19) ; chr19:g.33521961T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521961T>C , CM000681.2:g.33521961T>C	GRCh38
NC_000019.9:g.34012867T>C , CM000681.1:g.34012867T>C	GRCh37
NC_000019.8:g.38704707T>C	NCBI36
NG_013358.1:g.4933A>G
NG_013358.2:g.4933A>G

Transcript Alleles

HGVS	Amino-acid Change
XR_935918.1:n.20T>C
XR_935919.1:n.15T>C
XR_001754035.2:n.28T>C
XR_935918.2:n.28T>C