Canonical Allele Identifier:
CA634163189
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000489 (NFE)
Genomes Max Group AF
0.00000489 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2674279A>T , CM000682.2:g.2674279A>T | GRCh38 |
| NC_000020.10:g.2654925A>T , CM000682.1:g.2654925A>T | GRCh37 |
| NC_000020.9:g.2602925A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_937210.1:n.675-3839T>A | ||
| XR_937211.1:n.674-3696T>A | ||
| XR_937210.2:n.668-3839T>A | ||
| XR_937211.2:n.666-3696T>A |