Canonical Allele Identifier: CA337760350
Gene:

Linked Data

dbSNP Id: rs17269816
gnomAD v3: Y-14941891-C-T
gnomAD v4: Y-14941891-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.14941891C>T , CM000686.2:g.14941891C>T GRCh38
NC_000024.9:g.17053771C>T , CM000686.1:g.17053771C>T GRCh37
NC_000024.8:g.15563165C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000427212.2:n.76+70C>T