Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40762911C>T , CM000681.2:g.40762911C>T | GRCh38 |
| NC_000019.9:g.41268816C>T , CM000681.1:g.41268816C>T | GRCh37 |
| NC_000019.8:g.45960656C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243563.8:c.437C>T MANE Select | ENSP00000243563.2:p.Pro146Leu | |
| ENST00000243563.7:c.437C>T | ENSP00000243563.2:p.Pro146Leu | |
| ENST00000597353.5:c.437C>T | ENSP00000472449.1:p.Pro146Leu | |
| ENST00000598923.1:n.572C>T | ||
| ENST00000601393.1:c.374C>T | ENSP00000472355.1:p.Pro125Leu | |
| ENST00000601545.5:c.287C>T | ENSP00000470534.1:p.Pro96Leu | |
| NM_004596.4:c.437C>T | NP_004587.1:p.Pro146Leu | |
| NM_004596.5:c.437C>T MANE Select | NP_004587.1:p.Pro146Leu |