Canonical Allele Identifier: CA337626258
Gene:

Linked Data

dbSNP Id: rs35178723
gnomAD v3: Y-8746097-T-G
gnomAD v4: Y-8746097-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8746097T>G , CM000686.2:g.8746097T>G GRCh38
NC_000024.9:g.8614138T>G , CM000686.1:g.8614138T>G GRCh37
NC_000024.8:g.8674138T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000624593.1:c.-57+2619A>C ENSP00000485106.1:n.-57+2619A>C