Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51751943A= , CM000681.2:g.51751943A= | GRCh38 |
| NC_000019.9:g.52255196A= , CM000681.1:g.52255196A= | GRCh37 |
| NC_000019.8:g.56947008A= | NCBI36 |
| NG_023426.1:g.4955T= , LRG_146:g.4955T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000594900.1:c.-11-4938T= | ENSP00000470750.1:n.-11-4938T= |
| ENST00000594900.2:c.-11-4938T= | ENSP00000470750.2:n.-11-4938T= |