Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302125G= , CM000681.2:g.33302125G= | GRCh38 |
| NC_000019.9:g.33793031G= , CM000681.1:g.33793031G= | GRCh37 |
| NC_000019.8:g.38484871G= | NCBI36 |
| NG_012022.1:g.5400C= , LRG_456:g.5400C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.290C= MANE Select | ENSP00000427514.1:p.Pro97= | |
| ENST00000498907.2:c.290C= | ENSP00000427514.1:p.Pro97= | |
| NM_001285829.1:c.-68C= | NP_001272758.1:n.-68C= | |
| NM_001287424.1:c.395C= | NP_001274353.1:p.Pro132= | |
| NM_001287435.1:c.248C= | NP_001274364.1:p.Pro83= | |
| NM_004364.4:c.290C= | NP_004355.2:p.Pro97= | |
| NM_001287424.2:c.395C= | NP_001274353.1:p.Pro132= | |
| NM_004364.5:c.290C= MANE Select | NP_004355.2:p.Pro97= | |
| NM_001285829.2:c.-68C= | NP_001272758.1:n.-68C= | |
| NM_001287435.2:c.248C= | NP_001274364.1:p.Pro83= |