Canonical Allele Identifier: CA337592425
Gene:

Linked Data

dbSNP Id: rs774250717
gnomAD v3: Y-7680917-G-C
gnomAD v4: Y-7680917-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7680917G>C , CM000686.2:g.7680917G>C GRCh38
NC_000024.9:g.7548958G>C , CM000686.1:g.7548958G>C GRCh37
NC_000024.8:g.7608958G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000439805.1:n.616+53G>C