Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30704152C>T , CM000678.2:g.30704152C>T | GRCh38 |
| NC_000016.9:g.30715473C>T , CM000678.1:g.30715473C>T | GRCh37 |
| NC_000016.8:g.30622974C>T | NCBI36 |
| NG_032135.1:g.10012C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006662.3:c.143C>T MANE Select | NP_006653.2:p.Pro48Leu |
| ENST00000262518.9:c.143C>T MANE Select | ENSP00000262518.4:p.Pro48Leu |
| NM_006662.2:c.143C>T | NP_006653.2:p.Pro48Leu |
| ENST00000262518.8:c.143C>T | ENSP00000262518.4:p.Pro48Leu |
| ENST00000380361.7:c.86C>T | ENSP00000369719.3:p.Pro29Leu |
| ENST00000411466.6:c.143C>T | ENSP00000405186.2:p.Pro48Leu |
| ENST00000411466.7:c.143C>T | ENSP00000405186.3:p.Pro48Leu |
| ENST00000706321.1:c.143C>T | ENSP00000516346.1:p.Pro48Leu |