Canonical Allele Identifier: CA101489334
Gene:

Linked Data

dbSNP Id: rs939433790
gnomAD v3: 4-89655658-A-C
gnomAD v4: 4-89655658-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89655658A>C , CM000666.2:g.89655658A>C GRCh38
NC_000004.11:g.90576809A>C , CM000666.1:g.90576809A>C GRCh37
NC_000004.10:g.90795832A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_938986.1:n.434+27741A>C
XR_938987.1:n.688+27741A>C
XR_938988.1:n.554+27741A>C
XR_938990.1:n.299-35627A>C
XR_938991.1:n.434+27741A>C
XR_938994.1:n.779+27741A>C
XR_938995.1:n.613+27741A>C
XR_938986.2:n.459+27741A>C
XR_938987.2:n.748+27741A>C