Canonical Allele Identifier: CA1065217516

Gene:

Linked Data

• dbSNP Id: rs1721489368
• gnomAD v3: 4-89598071-T-C
• gnomAD v4: 4-89598071-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89598071T>C , CM000666.2:g.89598071T>C	GRCh38
NC_000004.11:g.90519222T>C , CM000666.1:g.90519222T>C	GRCh37
NC_000004.10:g.90738245T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938986.1:n.298+10131T>C
XR_938987.1:n.433-82T>C
XR_938988.1:n.299-82T>C
XR_938990.1:n.298+10131T>C
XR_938991.1:n.298+10131T>C
XR_938992.1:n.298+10131T>C
XR_938994.1:n.643+10131T>C
XR_938995.1:n.477+10131T>C
XR_938996.1:n.298+10131T>C
XR_938997.1:n.298+10131T>C
XR_938986.2:n.323+10131T>C
XR_938987.2:n.493-82T>C