Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663470C= , CM000676.2:g.36663470C= | GRCh38 |
| NC_000014.8:g.37132675C= , CM000676.1:g.37132675C= | GRCh37 |
| NC_000014.7:g.36202426C= | NCBI36 |
| NG_013357.1:g.10903C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361487.7:c.578C= MANE Select | ENSP00000355245.6:p.Pro193= | |
| ENST00000361487.6:c.578C= | ENSP00000355245.6:p.Pro193= | |
| ENST00000402703.6:c.578C= | ENSP00000384817.2:p.Pro193= | |
| ENST00000554201.1:c.17C= | ENSP00000450434.1:p.Pro6= | |
| NM_006194.3:c.578C= | NP_006185.1:p.Pro193= | |
| NM_001372076.1:c.578C= MANE Select | NP_001359005.1:p.Pro193= | |
| NM_006194.4:c.578C= | NP_006185.1:p.Pro193= |