Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29945968T>A , CM000668.2:g.29945968T>A | GRCh38 |
| NC_000006.11:g.29913745T>A , CM000668.1:g.29913745T>A | GRCh37 |
| NC_000006.10:g.30021724T>A | NCBI36 |
| NG_029217.2:g.8504T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706901.1:c.*513T>A | ENSP00000516612.1:n.*513T>A | |
| ENST00000706902.1:c.1093+687T>A | ENSP00000516613.1:n.1093+687T>A | |
| ENST00000706903.1:c.*124+389T>A | ENSP00000516614.1:n.*124+389T>A | |
| ENST00000706904.1:c.1093+687T>A | ENSP00000516615.1:n.1093+687T>A | |
| ENST00000706905.1:c.*513T>A | ENSP00000516616.1:n.*513T>A |