Canonical Allele Identifier: CA633718638

Gene:

Linked Data

• dbSNP Id: rs1288552514
• gnomAD v2: 19-51340617-G-T
• gnomAD v3: 19-50837361-G-T
• gnomAD v4: 19-50837361-G-T
• MyVariant Identifiers: chr19:g.51340617G>T (hg19) ; chr19:g.50837361G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50837361G>T , CM000681.2:g.50837361G>T	GRCh38
NC_000019.9:g.51340617G>T , CM000681.1:g.51340617G>T	GRCh37
NC_000019.8:g.56032429G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_131203.1:n.213+6068G>T
NR_131205.1:n.230+6068G>T
XR_936030.1:n.298+6068G>T
XR_936031.1:n.298+6068G>T
XR_936032.1:n.298+6068G>T
XR_936033.1:n.294+6068G>T
XR_936035.1:n.281+6068G>T