Canonical Allele Identifier:
CA748320220
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.27293028G>A , CM000683.2:g.27293028G>A | GRCh38 |
| NC_000021.8:g.28665347G>A , CM000683.1:g.28665347G>A | GRCh37 |
| NC_000021.7:g.27587218G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_430359.2:n.835-28458C>T | ||
| XR_937629.1:n.835-28458C>T | ||
| XR_937630.1:n.834+57471C>T | ||
| XR_430359.3:n.848-28458C>T | ||
| XR_937629.2:n.848-28458C>T |