Canonical Allele Identifier: CA799758221
Gene:

Linked Data

dbSNP Id: rs1472728881
gnomAD v3: 4-89597897-A-C
gnomAD v4: 4-89597897-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89597897A>C , CM000666.2:g.89597897A>C GRCh38
NC_000004.11:g.90519048A>C , CM000666.1:g.90519048A>C GRCh37
NC_000004.10:g.90738071A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.298+9957A>C
XR_938987.1:n.433-256A>C
XR_938988.1:n.299-256A>C
XR_938990.1:n.298+9957A>C
XR_938991.1:n.298+9957A>C
XR_938992.1:n.298+9957A>C
XR_938994.1:n.643+9957A>C
XR_938995.1:n.477+9957A>C
XR_938996.1:n.298+9957A>C
XR_938997.1:n.298+9957A>C
XR_938986.2:n.323+9957A>C
XR_938987.2:n.493-256A>C