Canonical Allele Identifier: CA12933939
Gene:

Linked Data

dbSNP Id: rs17763685
gnomAD v2: 8-24856504-C-T
gnomAD v3: 8-24998990-C-T
gnomAD v4: 8-24998990-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24998990C>T , CM000670.2:g.24998990C>T GRCh38
NC_000008.10:g.24856504C>T , CM000670.1:g.24856504C>T GRCh37
NC_000008.9:g.24912421C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949591.1:n.474+6640C>T