Canonical Allele Identifier: CA2479958562
Gene:

Linked Data

dbSNP Id: rs2485519
gnomAD v3: 1-152328371-G-A
gnomAD v4: 1-152328371-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152328371G>A , CM000663.2:g.152328371G>A GRCh38
NC_000001.10:g.152300847G>A , CM000663.1:g.152300847G>A GRCh37
NC_000001.9:g.150567471G>A NCBI36
NG_016190.1:g.1833C>T , LRG_1028:g.1833C>T

Transcript Alleles

HGVS Amino-acid Change
NR_103778.1:n.915-4212G>A
Search 100 bp 5'
Search 100 bp 3'