Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74529430C>T , CM000685.2:g.74529430C>T | GRCh38 |
| NC_000023.10:g.73749265C>T , CM000685.1:g.73749265C>T | GRCh37 |
| NC_000023.9:g.73665990C>T | NCBI36 |
| NG_011641.1:g.113181C>T | |
| NG_011641.2:g.113181C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006517.5:c.1388C>T MANE Select | NP_006508.2:p.Pro463Leu |
| ENST00000587091.6:c.1388C>T MANE Select | ENSP00000465734.1:p.Pro463Leu |
| NM_006517.4:c.1388C>T | NP_006508.2:p.Pro463Leu |
| ENST00000587091.5:c.1388C>T | ENSP00000465734.1:p.Pro463Leu |
| ENST00000590447.1:c.611-1903C>T | |
| ENST00000636771.1:c.1297C>T | |
| XM_005262294.1:c.1171-1903C>T | XP_005262351.1:n.1171-1903C>T |