Canonical Allele Identifier: CA101489356
Gene:

Linked Data

dbSNP Id: rs1031337228
gnomAD v3: 4-89655863-G-T
gnomAD v4: 4-89655863-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89655863G>T , CM000666.2:g.89655863G>T GRCh38
NC_000004.11:g.90577014G>T , CM000666.1:g.90577014G>T GRCh37
NC_000004.10:g.90796037G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.434+27946G>T
XR_938987.1:n.688+27946G>T
XR_938988.1:n.554+27946G>T
XR_938990.1:n.299-35422G>T
XR_938991.1:n.434+27946G>T
XR_938994.1:n.779+27946G>T
XR_938995.1:n.613+27946G>T
XR_938986.2:n.459+27946G>T
XR_938987.2:n.748+27946G>T