Canonical Allele Identifier: CA830286113
Gene:

Linked Data

dbSNP Id: rs1382991446
gnomAD v3: 6-98014828-T-C
gnomAD v4: 6-98014828-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98014828T>C , CM000668.2:g.98014828T>C GRCh38
NC_000006.11:g.98462704T>C , CM000668.1:g.98462704T>C GRCh37
NC_000006.10:g.98569425T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.371+45362T>C
XR_942809.1:n.371+45362T>C