Canonical Allele Identifier: CA1027923291
Gene:

Linked Data

dbSNP Id: rs1664552876
gnomAD v3: 2-16458273-G-T
gnomAD v4: 2-16458273-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.16458273G>T , CM000664.2:g.16458273G>T GRCh38
NC_000002.11:g.16639541G>T , CM000664.1:g.16639541G>T GRCh37
NC_000002.10:g.16503022G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939752.1:n.396-3179C>A