Canonical Allele Identifier: CA337626016
Gene:

Linked Data

dbSNP Id: rs970386314
gnomAD v3: Y-8734488-C-T
gnomAD v4: Y-8734488-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8734488C>T , CM000686.2:g.8734488C>T GRCh38
NC_000024.9:g.8602529C>T , CM000686.1:g.8602529C>T GRCh37
NC_000024.8:g.8662529C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000623558.1:c.197-5342C>T ENSP00000485446.1:n.197-5342C>T
ENST00000624237.1:c.64-7567C>T ENSP00000485137.1:n.64-7567C>T
ENST00000624593.1:c.-57+14228G>A ENSP00000485106.1:n.-57+14228G>A