Canonical Allele Identifier: CA1839056704
Gene:

Linked Data

dbSNP Id: rs1587158608
gnomAD v3: 9-21756019-C-T
gnomAD v4: 9-21756019-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21756019C>T , CM000671.2:g.21756019C>T GRCh38
NC_000009.11:g.21756018C>T , CM000671.1:g.21756018C>T GRCh37
NC_000009.10:g.21746018C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001746563.2:n.163+11806G>A