Canonical Allele Identifier: CA828760835
Gene:

Linked Data

dbSNP Id: rs1316078691
gnomAD v3: 6-8228597-G-T
gnomAD v4: 6-8228597-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8228597G>T , CM000668.2:g.8228597G>T GRCh38
NC_000006.11:g.8228830G>T , CM000668.1:g.8228830G>T GRCh37
NC_000006.10:g.8173829G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.83-1517G>T
XR_926441.1:n.190-10334G>T
XR_926442.1:n.83-1517G>T
XR_926443.1:n.83-10334G>T
XR_001743950.1:n.180-10334G>T
XR_926440.2:n.75-1517G>T
XR_926441.2:n.180-10334G>T
XR_926443.2:n.84-10334G>T