Canonical Allele Identifier: CA144319770
Gene:

Linked Data

dbSNP Id: rs898967125
gnomAD v2: 6-98550236-T-C
gnomAD v3: 6-98102360-T-C
gnomAD v4: 6-98102360-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102360T>C , CM000668.2:g.98102360T>C GRCh38
NC_000006.11:g.98550236T>C , CM000668.1:g.98550236T>C GRCh37
NC_000006.10:g.98656957T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.456+3090T>C
XR_942809.1:n.456+3090T>C