Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33521890A= , CM000681.2:g.33521890A= | GRCh38 |
| NC_000019.9:g.34012796A= , CM000681.1:g.34012796A= | GRCh37 |
| NC_000019.8:g.38704636A= | NCBI36 |
| NG_013358.1:g.5004T= | |
| NG_013358.2:g.5004T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000285.3:c.-130T= | NP_000276.2:n.-130T= | |
| NM_001166056.1:c.-130T= | NP_001159528.1:n.-130T= | |
| NM_001166057.1:c.-130T= | NP_001159529.1:n.-130T= |