Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.58390856C= , CM000672.2:g.58390856C= | GRCh38 |
| NC_000010.10:g.60150616C= , CM000672.1:g.60150616C= | GRCh37 |
| NC_000010.9:g.59820622C= | NCBI36 |
| NG_053006.1:g.10714C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487519.6:c.533C= MANE Select | ENSP00000420588.1:p.Pro178= | |
| ENST00000373895.7:c.441+2037C= | ENSP00000363002.3:n.441+2037C= | |
| ENST00000373899.3:n.803C= | ||
| ENST00000395377.2:c.477C= | ||
| ENST00000487519.5:c.533C= | ENSP00000420588.1:p.Pro178= | |
| NM_001270782.1:c.441+2037C= | NP_001257711.1:n.441+2037C= | |
| NM_003201.2:c.533C= | NP_003192.1:p.Pro178= | |
| NR_073073.1:n.1005C= | ||
| NM_003201.3:c.533C= MANE Select | NP_003192.1:p.Pro178= | |
| NM_001270782.2:c.441+2037C= | NP_001257711.1:n.441+2037C= | |
| NR_073073.2:n.738C= |