Canonical Allele Identifier: CA327796353
Gene:

Linked Data

dbSNP Id: rs5944185
gnomAD v2: X-25853614-T-C
gnomAD v3: X-25835497-T-C
gnomAD v4: X-25835497-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25835497T>C , CM000685.2:g.25835497T>C GRCh38
NC_000023.10:g.25853614T>C , CM000685.1:g.25853614T>C GRCh37
NC_000023.9:g.25763535T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001755821.2:n.470+16215T>C