Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.135497785C= , CM000668.2:g.135497785C= | GRCh38 |
| NC_000006.11:g.135818923C= , CM000668.1:g.135818923C= | GRCh37 |
| NC_000006.10:g.135860616C= | NCBI36 |
| NG_008643.1:g.4981G= | |
| NG_008643.2:g.4981G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680033.1:c.-2301G= | ENSP00000506426.1:n.-2301G= | |
| ENST00000681022.1:c.-2301G= | ENSP00000505121.1:n.-2301G= |