Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29827129T>G , CM000668.2:g.29827129T>G | GRCh38 |
| NC_000006.11:g.29794906T>G , CM000668.1:g.29794906T>G | GRCh37 |
| NC_000006.10:g.29902885T>G | NCBI36 |
| NG_029039.1:g.5151T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001363567.1:c.6+85T>G | NP_001350496.1:n.6+85T>G |
| NM_001363567.2:c.6+85T>G | NP_001350496.1:n.6+85T>G |
| NM_001384280.1:c.6+85T>G | NP_001371209.1:n.6+85T>G |
| NM_002127.5:c.-113+85T>G | NP_002118.1:n.-113+85T>G |
| NM_002127.6:c.-113+85T>G | NP_002118.1:n.-113+85T>G |
| ENST00000376828.6:c.6+85T>G | ENSP00000366024.2:n.6+85T>G |
| ENST00000428701.5:c.-113+85T>G | ENSP00000412927.1:n.-113+85T>G |
| ENST00000428701.6:n.66+85T>G |