Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137850375C= , CM000668.2:g.137850375C= | GRCh38 |
| NC_000006.11:g.138171512C= , CM000668.1:g.138171512C= | GRCh37 |
| NC_000006.10:g.138213205C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_049793.1:n.1056+14784G= | ||
| XR_943060.1:n.282-3124C= | ||
| XR_001744379.1:n.8848G= | ||
| XR_002956370.1:n.10646G= |