Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42276943A= , CM000679.2:g.42276943A= | GRCh38 |
| NC_000017.10:g.40428961A= , CM000679.1:g.40428961A= | GRCh37 |
| NC_000017.9:g.37682487A= | NCBI36 |
| NG_007271.1:g.4464T= , LRG_192:g.4464T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000698776.1:c.-11+10844T= | ENSP00000513923.1:n.-11+10844T= |
| ENST00000698777.1:c.-11+11517T= | ENSP00000513924.1:n.-11+11517T= |
| XM_024450897.1:c.-11+10844T= | XP_024306665.1:n.-11+10844T= |