Canonical Allele Identifier: CA830285511
Gene:

Linked Data

dbSNP Id: rs1421599191
gnomAD v3: 6-98102387-G-T
gnomAD v4: 6-98102387-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98102387G>T , CM000668.2:g.98102387G>T GRCh38
NC_000006.11:g.98550263G>T , CM000668.1:g.98550263G>T GRCh37
NC_000006.10:g.98656984G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245563.2:n.456+3117G>T
XR_942809.1:n.456+3117G>T