Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5923382C>T , CM000682.2:g.5923382C>T | GRCh38 |
| NC_000020.10:g.5904028C>T , CM000682.1:g.5904028C>T | GRCh37 |
| NC_000020.9:g.5852028C>T | NCBI36 |
| NG_042285.1:g.17055C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001819.3:c.1238C>T MANE Select | NP_001810.2:p.Pro413Leu |
| ENST00000378961.9:c.1238C>T MANE Select | ENSP00000368244.4:p.Pro413Leu |
| NM_001819.2:c.1238C>T | NP_001810.2:p.Pro413Leu |
| ENST00000378961.8:c.1238C>T | ENSP00000368244.4:p.Pro413Leu |