Canonical Allele Identifier: CA982866800
Gene:

Linked Data

dbSNP Id: rs1183197838
gnomAD v3: 17-30237363-G-C
gnomAD v4: 17-30237363-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237363G>C , CM000679.2:g.30237363G>C GRCh38
NC_000017.10:g.28564381G>C , CM000679.1:g.28564381G>C GRCh37
NC_000017.9:g.25588507G>C NCBI36
NG_011747.2:g.3574C>G

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.166-279G>C
XR_001752824.1:n.281-279G>C
Search 100 bp 5'
Search 100 bp 3'