Canonical Allele Identifier: CA2610262419
Gene:

Linked Data

gnomAD v4: 10-94762591-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762591T>C , CM000672.2:g.94762591T>C GRCh38
NC_000010.10:g.96522348T>C , CM000672.1:g.96522348T>C GRCh37
NC_000010.9:g.96512338T>C NCBI36
NG_008384.2:g.4886T>C
NG_008384.3:g.4911T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000464755.1:c.932-12467T>C ENSP00000483243.1:n.932-12467T>C
Search 100 bp 5'
Search 100 bp 3'