Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242477G= , CM000684.2:g.20242477G= | GRCh38 |
| NC_000022.10:g.20230000G= , CM000684.1:g.20230000G= | GRCh37 |
| NC_000022.9:g.18610000G= | NCBI36 |
| NG_012176.1:g.30817C= | |
| NG_012176.2:g.30817C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.656C= MANE Select | ENSP00000043402.7:p.Pro219= | |
| ENST00000043402.7:c.656C= | ENSP00000043402.7:p.Pro219= | |
| ENST00000416372.5:c.715C= | ||
| ENST00000425986.1:c.913C= | ||
| NM_023004.5:c.656C= | NP_075380.1:p.Pro219= | |
| NM_023004.6:c.656C= MANE Select | NP_075380.1:p.Pro219= |