Canonical Allele Identifier: CA15589677
Gene:

Linked Data

dbSNP Id: rs2218220
gnomAD v2: 9-21756089-C-T
gnomAD v3: 9-21756090-C-T
gnomAD v4: 9-21756090-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21756090C>T , CM000671.2:g.21756090C>T GRCh38
NC_000009.11:g.21756089C>T , CM000671.1:g.21756089C>T GRCh37
NC_000009.10:g.21746089C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001746563.2:n.163+11735G>A