Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713251G= , CM000681.2:g.6713251G= | GRCh38 |
| NC_000019.9:g.6713262G= , CM000681.1:g.6713262G= | GRCh37 |
| NC_000019.8:g.6664262G= | NCBI36 |
| NG_009557.1:g.12401C= , LRG_27:g.12401C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.941C= MANE Select | NP_000055.2:p.Pro314= |
| ENST00000245907.11:c.941C= MANE Select | ENSP00000245907.4:p.Pro314= |
| NM_000064.3:c.941C= | NP_000055.2:p.Pro314= |
| ENST00000245907.10:c.941C= | ENSP00000245907.4:p.Pro314= |
| ENST00000594270.5:n.65C= | |
| ENST00000595577.1:n.445C= | |
| ENST00000597442.5:n.191C= | |
| ENST00000695652.1:c.818C= | ENSP00000512083.1:p.Pro273= |
| ENST00000695654.1:c.65C= | ENSP00000512085.1:p.Pro22= |
| ENST00000695692.1:n.265C= |