Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96327588A>T , CM000677.2:g.96327588A>T | GRCh38 |
| NC_000015.9:g.96870817A>T , CM000677.1:g.96870817A>T | GRCh37 |
| NC_000015.8:g.94671821A>T | NCBI36 |
| NG_016753.1:g.6661A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421109.6:c.43+1236A>T | ENSP00000401674.2:n.43+1236A>T | |
| NM_001145155.1:c.43+1236A>T | NP_001138627.1:n.43+1236A>T | |
| NM_001145155.2:c.43+1236A>T | NP_001138627.1:n.43+1236A>T |