Canonical Allele Identifier:
CA2682265871
Gene:
Linked Data
gnomAD v4:
7-30911648-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30911648G>T , CM000669.2:g.30911648G>T | GRCh38 |
| NC_000007.13:g.30951263G>T , CM000669.1:g.30951263G>T | GRCh37 |
| NC_000007.12:g.30917788G>T | NCBI36 |
| NG_007475.2:g.63255G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509504.2:c.622-345G>T |