Canonical Allele Identifier: CA144309911
Gene:

Linked Data

dbSNP Id: rs752933273
gnomAD v3: 6-98014794-G-T
gnomAD v4: 6-98014794-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98014794G>T , CM000668.2:g.98014794G>T GRCh38
NC_000006.11:g.98462670G>T , CM000668.1:g.98462670G>T GRCh37
NC_000006.10:g.98569391G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.371+45328G>T
XR_942809.1:n.371+45328G>T