Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957837G= , CM000669.2:g.142957837G= | GRCh38 |
| NC_000007.13:g.142654924G= , CM000669.1:g.142654924G= | GRCh37 |
| NC_000007.12:g.142365046G= | NCBI36 |
| NG_007492.1:g.9580C= | |
| NG_007492.2:g.9580C= | |
| NG_007492.3:g.9580C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.662C= MANE Select | ENSP00000347409.2:p.Pro221= | |
| ENST00000467543.6:c.*514C= | ENSP00000420011.2:n.*514C= | |
| ENST00000355265.6:c.662C= | ENSP00000347409.2:p.Pro221= | |
| ENST00000467543.5:c.605C= | ENSP00000420011.1:p.Pro202= | |
| ENST00000476829.5:c.525+467C= | ENSP00000419889.1:n.525+467C= | |
| ENST00000479768.6:n.780C= | ||
| ENST00000494148.1:n.261C= | ||
| NM_000420.2:c.662C= | NP_000411.1:p.Pro221= | |
| XM_005249993.2:c.698C= | XP_005250050.1:p.Pro233= | |
| NM_000420.3:c.662C= MANE Select | NP_000411.1:p.Pro221= |