Canonical Allele Identifier: CA16061061
Gene:

Linked Data

dbSNP Id: rs2022309
gnomAD v2: 1-95052476-G-T
gnomAD v3: 1-94586920-G-T
gnomAD v4: 1-94586920-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94586920G>T , CM000663.2:g.94586920G>T GRCh38
NC_000001.10:g.95052476G>T , CM000663.1:g.95052476G>T GRCh37
NC_000001.9:g.94825064G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001738161.1:n.461+23307G>T