Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214810286C= , CM000664.2:g.214810286C= | GRCh38 |
| NC_000002.11:g.215675010C= , CM000664.1:g.215675010C= | GRCh37 |
| NC_000002.10:g.215383255C= | NCBI36 |
| NG_012047.2:g.4419G= | |
| NG_012047.3:g.4426G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110292.1:n.58C= |