Canonical Allele Identifier: CA883240747

Gene:

Linked Data

• dbSNP Id: rs1210756411
• gnomAD v3: 19-50837751-T-G
• gnomAD v4: 19-50837751-T-G
• MyVariant Identifiers: chr19:g.51341007T>G (hg19) ; chr19:g.50837751T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50837751T>G , CM000681.2:g.50837751T>G	GRCh38
NC_000019.9:g.51341007T>G , CM000681.1:g.51341007T>G	GRCh37
NC_000019.8:g.56032819T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_131203.1:n.213+6458T>G
NR_131205.1:n.230+6458T>G
XR_936030.1:n.298+6458T>G
XR_936031.1:n.298+6458T>G
XR_936032.1:n.298+6458T>G
XR_936033.1:n.294+6458T>G
XR_936035.1:n.281+6458T>G