Canonical Allele Identifier: CA144309874
Gene:

Linked Data

dbSNP Id: rs973773204
gnomAD v3: 6-98014510-T-G
gnomAD v4: 6-98014510-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98014510T>G , CM000668.2:g.98014510T>G GRCh38
NC_000006.11:g.98462386T>G , CM000668.1:g.98462386T>G GRCh37
NC_000006.10:g.98569107T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.371+45044T>G
XR_942809.1:n.371+45044T>G