Canonical Allele Identifier: CA1086843463
Gene:

Linked Data

dbSNP Id: rs1762375387
gnomAD v3: 6-23076984-A-G
gnomAD v4: 6-23076984-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.23076984A>G , CM000668.2:g.23076984A>G GRCh38
NC_000006.11:g.23077212A>G , CM000668.1:g.23077212A>G GRCh37
NC_000006.10:g.23185191A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926583.1:n.246-19917T>C
XR_926584.1:n.246-60164T>C
XR_926583.2:n.246-19917T>C