Canonical Allele Identifier: CA531234621
Gene:

Linked Data

dbSNP Id: rs1203778053
gnomAD v2: 2-16639635-T-C
gnomAD v3: 2-16458367-T-C
gnomAD v4: 2-16458367-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.16458367T>C , CM000664.2:g.16458367T>C GRCh38
NC_000002.11:g.16639635T>C , CM000664.1:g.16639635T>C GRCh37
NC_000002.10:g.16503116T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939752.1:n.396-3273A>G