Canonical Allele Identifier: CA862568108
Gene:

Linked Data

dbSNP Id: rs1385669954
gnomAD v3: 9-25551302-G-A
gnomAD v4: 9-25551302-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551302G>A , CM000671.2:g.25551302G>A GRCh38
NC_000009.11:g.25551300G>A , CM000671.1:g.25551300G>A GRCh37
NC_000009.10:g.25541300G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929525.1:n.50-730C>T
XR_929525.2:n.674-730C>T