Canonical Allele Identifier: CA190667404
Gene:

Linked Data

dbSNP Id: rs1006274248
gnomAD v2: 9-21756053-T-A
gnomAD v3: 9-21756054-T-A
gnomAD v4: 9-21756054-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21756054T>A , CM000671.2:g.21756054T>A GRCh38
NC_000009.11:g.21756053T>A , CM000671.1:g.21756053T>A GRCh37
NC_000009.10:g.21746053T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746563.2:n.163+11771A>T