Canonical Allele Identifier: CA191701701
Gene:

Linked Data

dbSNP Id: rs7044049
gnomAD v2: 9-25551384-T-C
gnomAD v3: 9-25551386-T-C
gnomAD v4: 9-25551386-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551386T>C , CM000671.2:g.25551386T>C GRCh38
NC_000009.11:g.25551384T>C , CM000671.1:g.25551384T>C GRCh37
NC_000009.10:g.25541384T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929525.1:n.50-814A>G
XR_929525.2:n.674-814A>G