Canonical Allele Identifier: CA799753392
Gene:

Linked Data

dbSNP Id: rs1236515657
gnomAD v3: 4-89655599-A-C
gnomAD v4: 4-89655599-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89655599A>C , CM000666.2:g.89655599A>C GRCh38
NC_000004.11:g.90576750A>C , CM000666.1:g.90576750A>C GRCh37
NC_000004.10:g.90795773A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.434+27682A>C
XR_938987.1:n.688+27682A>C
XR_938988.1:n.554+27682A>C
XR_938990.1:n.299-35686A>C
XR_938991.1:n.434+27682A>C
XR_938994.1:n.779+27682A>C
XR_938995.1:n.613+27682A>C
XR_938986.2:n.459+27682A>C
XR_938987.2:n.748+27682A>C