Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42368861C>T , CM000681.2:g.42368861C>T | GRCh38 |
| NC_000019.9:g.42873013C>T , CM000681.1:g.42873013C>T | GRCh37 |
| NC_000019.8:g.47564853C>T | NCBI36 |
| NG_033030.1:g.48253C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001271938.2:c.6500C>T MANE Select | NP_001258867.1:p.Pro2167Leu |
| ENST00000251268.11:c.6500C>T MANE Select | ENSP00000251268.5:p.Pro2167Leu |
| NM_001271938.1:c.6500C>T | NP_001258867.1:p.Pro2167Leu |
| NM_001410.2:c.6299C>T | NP_001401.2:p.Pro2100Leu |
| NM_001410.3:c.6299C>T | NP_001401.2:p.Pro2100Leu |
| ENST00000251268.10:c.6500C>T | ENSP00000251268.5:p.Pro2167Leu |
| ENST00000334370.8:c.6299C>T | ENSP00000334219.4:p.Pro2100Leu |
| ENST00000378073.5:c.-586C>T | ENSP00000367313.4:n.-586C>T |
| ENST00000598762.1:c.161+6648C>T |