Canonical Allele Identifier:
CA2682265865
Gene:
Linked Data
gnomAD v4:
7-30911644-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30911644G>T , CM000669.2:g.30911644G>T | GRCh38 |
| NC_000007.13:g.30951259G>T , CM000669.1:g.30951259G>T | GRCh37 |
| NC_000007.12:g.30917784G>T | NCBI36 |
| NG_007475.2:g.63251G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509504.2:c.622-349G>T |