Canonical Allele Identifier: CA1066140449
Gene:

Linked Data

gnomAD v3: 4-102499818-T-C
gnomAD v4: 4-102499818-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499818T>C , CM000666.2:g.102499818T>C GRCh38
NC_000004.11:g.103420975T>C , CM000666.1:g.103420975T>C GRCh37
NC_000004.10:g.103640007T>C NCBI36
NG_050628.1:g.3490T>C

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1431A>G XP_011530769.1:n.643+1431A>G
NR_136202.1:n.48+2621A>G
Search 100 bp 5'
Search 100 bp 3'