Canonical Allele Identifier: CA1110104764
Gene:

Linked Data

dbSNP Id: rs1798577359
gnomAD v3: 8-5907364-T-C
gnomAD v4: 8-5907364-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5907364T>C , CM000670.2:g.5907364T>C GRCh38
NC_000008.10:g.5764886T>C , CM000670.1:g.5764886T>C GRCh37
NC_000008.9:g.5752294T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-7633A>G
XR_941375.1:n.308-7633A>G
XR_941376.1:n.406-7633A>G
XR_941377.1:n.308-7633A>G
XR_941378.1:n.216-7633A>G
XR_001745765.1:n.308-7633A>G
XR_001745766.1:n.406-7633A>G
XR_001745767.1:n.216-7633A>G
XR_001745768.1:n.308-7633A>G
XR_941374.2:n.308-7633A>G
XR_941375.2:n.308-7633A>G