Canonical Allele Identifier: CA1948159613
Gene:

Linked Data

dbSNP Id: rs1589883730
gnomAD v4: 11-2444544-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444544T>G , CM000673.2:g.2444544T>G GRCh38
NC_000011.9:g.2465774T>G , CM000673.1:g.2465774T>G GRCh37
NC_000011.8:g.2422350T>G NCBI36
NG_008935.1:g.4554T>G , LRG_287:g.4554T>G

Transcript Alleles

HGVS Amino-acid Change
XR_930984.1:n.27A>C
Search 100 bp 5'
Search 100 bp 3'