Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2470834A= , CM000682.2:g.2470834A= | GRCh38 |
| NC_000020.10:g.2451480A= , CM000682.1:g.2451480A= | GRCh37 |
| NC_000020.9:g.2399480A= | NCBI36 |
| NG_042057.1:g.5020T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381342.6:c.-144T= | ENSP00000370746.2:n.-144T= | |
| ENST00000438552.6:c.-144T= | ENSP00000412566.2:n.-144T= | |
| ENST00000461548.1:c.305-3076T= | ENSP00000456213.1:n.305-3076T= | |
| NM_003091.3:c.-144T= | NP_003082.1:n.-144T= | |
| NM_198216.1:c.-144T= | NP_937859.1:n.-144T= |