Canonical Allele Identifier: CA190667418
Gene:

Linked Data

dbSNP Id: rs1030498074
gnomAD v2: 9-21756067-C-T
gnomAD v3: 9-21756068-C-T
gnomAD v4: 9-21756068-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21756068C>T , CM000671.2:g.21756068C>T GRCh38
NC_000009.11:g.21756067C>T , CM000671.1:g.21756067C>T GRCh37
NC_000009.10:g.21746067C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746563.2:n.163+11757G>A