Canonical Allele Identifier: CA144309897
Gene:

Linked Data

dbSNP Id: rs773029902
gnomAD v3: 6-98014721-T-C
gnomAD v4: 6-98014721-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98014721T>C , CM000668.2:g.98014721T>C GRCh38
NC_000006.11:g.98462597T>C , CM000668.1:g.98462597T>C GRCh37
NC_000006.10:g.98569318T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.371+45255T>C
XR_942809.1:n.371+45255T>C