Canonical Allele Identifier: CA175153976
Gene:

Linked Data

dbSNP Id: rs1028093215
gnomAD v2: 8-33665786-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808268T>C , CM000670.2:g.33808268T>C GRCh38
NC_000008.10:g.33665786T>C , CM000670.1:g.33665786T>C GRCh37
NC_000008.9:g.33785328T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949659.1:n.240+11832T>C
XR_002956701.1:n.240+11832T>C