Canonical Allele Identifier: CA143036984
Gene:

Linked Data

dbSNP Id: rs9444373
gnomAD v2: 6-86691946-T-C
gnomAD v3: 6-85982228-T-C
gnomAD v4: 6-85982228-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.85982228T>C , CM000668.2:g.85982228T>C GRCh38
NC_000006.11:g.86691946T>C , CM000668.1:g.86691946T>C GRCh37
NC_000006.10:g.86748665T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_241869.3:n.615-11152T>C
XR_942747.1:n.41-1141T>C
XR_942748.1:n.27-1141T>C
XR_001744239.1:n.1570-11152T>C
XR_001744243.1:n.1433-11152T>C
XR_002956361.1:n.1992-11152T>C