Canonical Allele Identifier: CA996828885

Gene:

Linked Data

• dbSNP Id: rs2090049960
• gnomAD v3: 19-50837485-A-C
• gnomAD v4: 19-50837485-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50837485A>C , CM000681.2:g.50837485A>C	GRCh38
NC_000019.9:g.51340741A>C , CM000681.1:g.51340741A>C	GRCh37
NC_000019.8:g.56032553A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_131203.1:n.213+6192A>C
NR_131205.1:n.230+6192A>C
XR_936030.1:n.298+6192A>C
XR_936031.1:n.298+6192A>C
XR_936032.1:n.298+6192A>C
XR_936033.1:n.294+6192A>C
XR_936035.1:n.281+6192A>C