Canonical Allele Identifier: CA581191534
Gene:

Linked Data

dbSNP Id: rs1171058302
gnomAD v2: 8-33665776-T-C
gnomAD v3: 8-33808258-T-C
gnomAD v4: 8-33808258-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808258T>C , CM000670.2:g.33808258T>C GRCh38
NC_000008.10:g.33665776T>C , CM000670.1:g.33665776T>C GRCh37
NC_000008.9:g.33785318T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949659.1:n.240+11822T>C
XR_002956701.1:n.240+11822T>C