Canonical Allele Identifier:
CA2632821147
Gene:
Linked Data
gnomAD v4:
16-31090818-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31090818C>T , CM000678.2:g.31090818C>T | GRCh38 |
| NC_000016.9:g.31102139C>T , CM000678.1:g.31102139C>T | GRCh37 |
| NC_000016.8:g.31009640C>T | NCBI36 |
| NG_011564.1:g.9138G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529564.1:c.283+2494G>A | ENSP00000431371.1:n.283+2494G>A | |
| ENST00000532364.1:c.173+3739G>A | ENSP00000460316.1:n.173+3739G>A | |
| ENST00000533518.5:c.407+274G>A |