Canonical Allele Identifier: CA136859153
Gene:

Linked Data

dbSNP Id: rs139197889
gnomAD v2: 6-31407948-A-T
gnomAD v3: 6-31440171-A-T
gnomAD v4: 6-31440171-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31440171A>T , CM000668.2:g.31440171A>T GRCh38
NC_000006.11:g.31407948A>T , CM000668.1:g.31407948A>T GRCh37
NC_000006.10:g.31515927A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.55-119T>A