Canonical Allele Identifier: CA102638084
Gene:

Linked Data

dbSNP Id: rs984246482
gnomAD v3: 4-99474307-A-T
gnomAD v4: 4-99474307-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99474307A>T , CM000666.2:g.99474307A>T GRCh38
NC_000004.11:g.100395464A>T , CM000666.1:g.100395464A>T GRCh37
NC_000004.10:g.100614487A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506494.1:n.242+2441T>A