Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48875815C= , CM000681.2:g.48875815C= | GRCh38 |
| NC_000019.9:g.49379072C= , CM000681.1:g.49379072C= | GRCh37 |
| NC_000019.8:g.54070884C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600406.2:c.*722C= | ENSP00000469239.2:n.*722C= | |
| ENST00000704026.1:c.1582C= | ENSP00000515636.1:p.Pro528= | |
| ENST00000704027.1:c.1915C= | ENSP00000515637.1:p.Pro639= | |
| ENST00000200453.6:c.1867C= MANE Select | ENSP00000200453.4:p.Pro623= | |
| ENST00000200453.5:c.1867C= | ENSP00000200453.4:p.Pro623= | |
| ENST00000600406.1:c.1498C= | ||
| NM_014330.3:c.1867C= | NP_055145.3:p.Pro623= | |
| NM_014330.5:c.1867C= MANE Select | NP_055145.3:p.Pro623= |