Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.22131720C= , CM000668.2:g.22131720C= | GRCh38 |
| NC_000006.11:g.22131949C= , CM000668.1:g.22131949C= | GRCh37 |
| NC_000006.10:g.22239928C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_015410.1:n.1391+20800C= | ||
| NR_015410.2:n.1422+20800C= |