Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154473G>A , CM000668.2:g.3154473G>A | GRCh38 |
| NC_000006.11:g.3154707G>A , CM000668.1:g.3154707G>A | GRCh37 |
| NC_000006.10:g.3099706G>A | NCBI36 |
| NG_042223.1:g.8077C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001069.3:c.728C>T MANE Select | NP_001060.1:p.Pro243Leu |
| ENST00000333628.4:c.728C>T MANE Select | ENSP00000369703.2:p.Pro243Leu |
| NM_001069.2:c.728C>T | NP_001060.1:p.Pro243Leu |
| NM_001310315.1:c.473C>T | NP_001297244.1:p.Pro158Leu |
| NM_001310315.2:c.473C>T | NP_001297244.1:p.Pro158Leu |
| ENST00000333628.3:c.728C>T | ENSP00000369703.2:p.Pro243Leu |
| ENST00000679400.1:n.784C>T | |
| ENST00000679907.1:n.1116C>T | |
| ENST00000680036.1:n.1510C>T | |
| ENST00000680967.1:n.1818C>T |