Canonical Allele Identifier: CA47693318
Gene:

Linked Data

dbSNP Id: rs557079798
gnomAD v3: 2-52722355-G-T
gnomAD v4: 2-52722355-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.52722355G>T , CM000664.2:g.52722355G>T GRCh38
NC_000002.11:g.52949493G>T , CM000664.1:g.52949493G>T GRCh37
NC_000002.10:g.52802997G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002959384.1:n.902C>A