Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492655G= , CM000674.2:g.52492655G= | GRCh38 |
| NC_000012.11:g.52886439G= , CM000674.1:g.52886439G= | GRCh37 |
| NC_000012.10:g.51172706G= | NCBI36 |
| NG_008298.1:g.5743C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.534C= MANE Select | ENSP00000369317.3:p.Ile178= | |
| ENST00000330722.6:c.534C= | ENSP00000369317.3:p.Ile178= | |
| ENST00000549898.5:n.55C= | ||
| NM_005554.3:c.534C= | NP_005545.1:p.Ile178= | |
| NM_005554.4:c.534C= MANE Select | NP_005545.1:p.Ile178= |