Canonical Allele Identifier: CA2639246533
Gene:

Linked Data

gnomAD v4: 17-63498397-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63498397G>T , CM000679.2:g.63498397G>T GRCh38
NC_000017.10:g.61575758G>T , CM000679.1:g.61575758G>T GRCh37
NC_000017.9:g.58929490G>T NCBI36
NG_011648.1:g.26325G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1969+1412G>T ENSP00000464149.1:n.1969+1412G>T
Search 100 bp 5'
Search 100 bp 3'