Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694783C= , CM000685.2:g.153694783C= | GRCh38 |
| NC_000023.10:g.152960238C= , CM000685.1:g.152960238C= | GRCh37 |
| NC_000023.9:g.152613432C= | NCBI36 |
| NG_012016.1:g.11487C= | |
| NG_012016.2:g.11487C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005629.4:c.1661C= MANE Select | NP_005620.1:p.Pro554= |
| ENST00000253122.10:c.1661C= MANE Select | ENSP00000253122.5:p.Pro554= |
| NM_001142805.1:c.1631C= | NP_001136277.1:p.Pro544= |
| NM_001142805.2:c.1631C= | NP_001136277.1:p.Pro544= |
| NM_001142806.1:c.1316C= | NP_001136278.1:p.Pro439= |
| NM_005629.3:c.1661C= | NP_005620.1:p.Pro554= |
| ENST00000253122.9:c.1661C= | ENSP00000253122.5:p.Pro554= |
| ENST00000430077.6:c.1316C= | ENSP00000403041.2:p.Pro439= |
| ENST00000485324.1:n.1968C= |