Canonical Allele Identifier: CA15344563
Gene:

Linked Data

dbSNP Id: rs28673968
gnomAD v2: 4-90576890-T-C
gnomAD v3: 4-89655739-T-C
gnomAD v4: 4-89655739-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89655739T>C , CM000666.2:g.89655739T>C GRCh38
NC_000004.11:g.90576890T>C , CM000666.1:g.90576890T>C GRCh37
NC_000004.10:g.90795913T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_938986.1:n.434+27822T>C
XR_938987.1:n.688+27822T>C
XR_938988.1:n.554+27822T>C
XR_938990.1:n.299-35546T>C
XR_938991.1:n.434+27822T>C
XR_938994.1:n.779+27822T>C
XR_938995.1:n.613+27822T>C
XR_938986.2:n.459+27822T>C
XR_938987.2:n.748+27822T>C