Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39408434C>T , CM000681.2:g.39408434C>T | GRCh38 |
| NC_000019.9:g.39899074C>T , CM000681.1:g.39899074C>T | GRCh37 |
| NC_000019.8:g.44590914C>T | NCBI36 |
| NG_054904.1:g.853C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594442.2:c.734C>T | ENSP00000471239.2:p.Pro245Leu | |
| ENST00000597629.3:c.716C>T MANE Select | ENSP00000469647.2:p.Pro239Leu | |
| ENST00000652583.1:n.765C>T | ||
| ENST00000594442.1:c.765C>T | ||
| ENST00000597629.1:c.734C>T | ENSP00000469647.1:p.Pro245Leu | |
| NM_003407.3:c.734C>T | NP_003398.2:p.Pro245Leu | |
| NM_003407.4:c.716C>T | NP_003398.3:p.Pro239Leu | |
| NM_003407.5:c.716C>T MANE Select | NP_003398.3:p.Pro239Leu |