Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71784092T= , CM000666.2:g.71784092T= | GRCh38 |
| NC_000004.11:g.72649809T= , CM000666.1:g.72649809T= | GRCh37 |
| NC_000004.10:g.72868673T= | NCBI36 |
| NG_012837.2:g.26429A= | |
| NG_012837.3:g.26429A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273951.12:c.-74A= | ENSP00000273951.8:n.-74A= | |
| ENST00000504199.5:c.22-38A= | ENSP00000421725.1:n.22-38A= | |
| ENST00000506245.1:c.-36-38A= | ENSP00000426718.1:n.-36-38A= | |
| NM_000583.3:c.-74A= | NP_000574.2:n.-74A= | |
| NM_001204306.1:c.-36-38A= | NP_001191235.1:n.-36-38A= | |
| NM_001204307.1:c.22-38A= | NP_001191236.1:n.22-38A= | |
| XM_006714177.2:c.-74A= | XP_006714240.1:n.-74A= |