Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48633497G= , CM000681.2:g.48633497G= | GRCh38 |
| NC_000019.9:g.49136754G= , CM000681.1:g.49136754G= | GRCh37 |
| NC_000019.8:g.53828566G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222122.10:c.709C= MANE Select | ENSP00000222122.4:p.Pro237= | |
| ENST00000222122.9:c.709C= | ENSP00000222122.4:p.Pro237= | |
| ENST00000593500.1:c.103C= | ENSP00000471220.1:p.Pro35= | |
| ENST00000594723.1:n.2952C= | ||
| ENST00000599385.5:c.103C= | ENSP00000469426.1:p.Pro35= | |
| ENST00000601104.1:c.709C= | ENSP00000469291.1:p.Pro237= | |
| NM_001352.4:c.709C= | NP_001343.2:p.Pro237= | |
| XM_017026388.2:c.280C= | XP_016881877.1:p.Pro94= | |
| XR_243907.4:n.1614C= | ||
| NM_001352.5:c.709C= MANE Select | NP_001343.2:p.Pro237= |