Canonical Allele Identifier: CA134173723
Gene:

Linked Data

dbSNP Id: rs1028880732
gnomAD v3: 6-11943682-G-C
gnomAD v4: 6-11943682-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.11943682G>C , CM000668.2:g.11943682G>C GRCh38
NC_000006.11:g.11943915G>C , CM000668.1:g.11943915G>C GRCh37
NC_000006.10:g.12051901G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001743976.1:n.348-7853G>C