Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29945977A>T , CM000668.2:g.29945977A>T | GRCh38 |
| NC_000006.11:g.29913754A>T , CM000668.1:g.29913754A>T | GRCh37 |
| NC_000006.10:g.30021733A>T | NCBI36 |
| NG_029217.2:g.8513A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706901.1:c.*522A>T | ENSP00000516612.1:n.*522A>T | |
| ENST00000706902.1:c.1093+696A>T | ENSP00000516613.1:n.1093+696A>T | |
| ENST00000706903.1:c.*124+398A>T | ENSP00000516614.1:n.*124+398A>T | |
| ENST00000706904.1:c.1093+696A>T | ENSP00000516615.1:n.1093+696A>T | |
| ENST00000706905.1:c.*522A>T | ENSP00000516616.1:n.*522A>T |