Canonical Allele Identifier: CA632705492

Gene:

Linked Data

• dbSNP Id: rs1390931852
• gnomAD v2: 19-34012890-G-C
• gnomAD v3: 19-33521984-G-C
• gnomAD v4: 19-33521984-G-C
• MyVariant Identifiers: chr19:g.34012890G>C (hg19) ; chr19:g.33521984G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521984G>C , CM000681.2:g.33521984G>C	GRCh38
NC_000019.9:g.34012890G>C , CM000681.1:g.34012890G>C	GRCh37
NC_000019.8:g.38704730G>C	NCBI36
NG_013358.1:g.4910C>G
NG_013358.2:g.4910C>G

Transcript Alleles

HGVS	Amino-acid Change
XR_935918.1:n.43G>C
XR_935919.1:n.38G>C
XR_001754035.2:n.51G>C
XR_935918.2:n.51G>C