Canonical Allele Identifier: CA996828854

Gene:

Linked Data

• dbSNP Id: rs2090049584
• gnomAD v3: 19-50837364-G-C
• gnomAD v4: 19-50837364-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50837364G>C , CM000681.2:g.50837364G>C	GRCh38
NC_000019.9:g.51340620G>C , CM000681.1:g.51340620G>C	GRCh37
NC_000019.8:g.56032432G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_131203.1:n.213+6071G>C
NR_131205.1:n.230+6071G>C
XR_936030.1:n.298+6071G>C
XR_936031.1:n.298+6071G>C
XR_936032.1:n.298+6071G>C
XR_936033.1:n.294+6071G>C
XR_936035.1:n.281+6071G>C