Canonical Allele Identifier: CA136858892
Gene:

Linked Data

dbSNP Id: rs926550342
gnomAD v3: 6-31439688-G-A
gnomAD v4: 6-31439688-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31439688G>A , CM000668.2:g.31439688G>A GRCh38
NC_000006.11:g.31407465G>A , CM000668.1:g.31407465G>A GRCh37
NC_000006.10:g.31515444G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.419C>T