Canonical Allele Identifier:
CA231763636
Community Standard Title: NC_000012.12:g.4380069T>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4380069T>C , CM000674.2:g.4380069T>C | GRCh38 |
| NC_000012.11:g.4489235T>C , CM000674.1:g.4489235T>C | GRCh37 |
| NC_000012.10:g.4359496T>C | NCBI36 |
| NG_007087.1:g.4660A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000648100.1:c.*1967+13787T>C | ENSP00000497536.1:n.*1967+13787T>C |
| ENST00000674624.1:c.*1204+13787T>C | ENSP00000501898.1:n.*1204+13787T>C |