Canonical Allele Identifier: CA586881658
Gene:

Linked Data

dbSNP Id: rs1412106620
gnomAD v2: 9-21756015-C-T
gnomAD v3: 9-21756016-C-T
gnomAD v4: 9-21756016-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21756016C>T , CM000671.2:g.21756016C>T GRCh38
NC_000009.11:g.21756015C>T , CM000671.1:g.21756015C>T GRCh37
NC_000009.10:g.21746015C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001746563.2:n.163+11809G>A