Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242734G= , CM000684.2:g.20242734G= | GRCh38 |
| NC_000022.10:g.20230257G= , CM000684.1:g.20230257G= | GRCh37 |
| NC_000022.9:g.18610257G= | NCBI36 |
| NG_012176.1:g.30560C= | |
| NG_012176.2:g.30560C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.399C= MANE Select | ENSP00000043402.7:p.His133= | |
| ENST00000043402.7:c.399C= | ENSP00000043402.7:p.His133= | |
| ENST00000416372.5:c.458C= | ||
| ENST00000425986.1:c.656C= | ||
| ENST00000469601.1:n.535C= | ||
| NM_023004.5:c.399C= | NP_075380.1:p.His133= | |
| NM_023004.6:c.399C= MANE Select | NP_075380.1:p.His133= |