Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519820G= , CM000674.2:g.52519820G= | GRCh38 |
| NC_000012.11:g.52913604G= , CM000674.1:g.52913604G= | GRCh37 |
| NC_000012.10:g.51199871G= | NCBI36 |
| NG_008297.1:g.5640C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252242.9:c.477C= MANE Select | ENSP00000252242.4:p.Pro159= | |
| ENST00000252242.8:c.477C= | ENSP00000252242.4:p.Pro159= | |
| ENST00000549420.1:c.147C= | ENSP00000447209.1:p.Pro49= | |
| ENST00000551275.1:c.372C= | ENSP00000448041.1:p.Pro124= | |
| ENST00000552629.5:n.575C= | ||
| NM_000424.3:c.477C= | NP_000415.2:p.Pro159= | |
| NM_000424.4:c.477C= MANE Select | NP_000415.2:p.Pro159= |