Canonical Allele Identifier: CA1122156098
Gene:

Linked Data

dbSNP Id: rs1823378590
gnomAD v3: 9-21756045-C-T
gnomAD v4: 9-21756045-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21756045C>T , CM000671.2:g.21756045C>T GRCh38
NC_000009.11:g.21756044C>T , CM000671.1:g.21756044C>T GRCh37
NC_000009.10:g.21746044C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746563.2:n.163+11780G>A