Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35880687A= , CM000679.2:g.35880687A= | GRCh38 |
| NC_000017.9:g.31231804A= | NCBI36 |
| NG_015990.1:g.4687T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000605509.2:c.-18+42T= | ENSP00000474141.2:n.-18+42T= | |
| ENST00000605140.5:c.-18+42T= | ENSP00000475057.1:n.-18+42T= | |
| XR_934696.1:n.197-3695A= | ||
| XR_934697.1:n.200-3695A= | ||
| XR_001752852.1:n.426+613A= | ||
| XR_934696.2:n.91-3695A= | ||
| XR_934697.2:n.91-3695A= |