Canonical Allele Identifier: CA337592427
Gene:

Linked Data

dbSNP Id: rs978611480
gnomAD v3: Y-7680947-C-T
gnomAD v4: Y-7680947-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7680947C>T , CM000686.2:g.7680947C>T GRCh38
NC_000024.9:g.7548988C>T , CM000686.1:g.7548988C>T GRCh37
NC_000024.8:g.7608988C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000439805.1:n.617-36C>T