Canonical Allele Identifier: CA136859110
Gene:

Linked Data

dbSNP Id: rs977418805
gnomAD v2: 6-31407860-G-T
gnomAD v3: 6-31440083-G-T
gnomAD v4: 6-31440083-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31440083G>T , CM000668.2:g.31440083G>T GRCh38
NC_000006.11:g.31407860G>T , CM000668.1:g.31407860G>T GRCh37
NC_000006.10:g.31515839G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.55-31C>A