Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133538860T>C , CM000672.2:g.133538860T>C | GRCh38 |
| NC_000010.10:g.135352364T>C , CM000672.1:g.135352364T>C | GRCh37 |
| NC_000010.9:g.135202354T>C | NCBI36 |
| NG_008383.1:g.16498T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.1378T>C MANE Select | ENSP00000252945.3:p.Leu460= | |
| ENST00000252945.7:c.1378T>C | ENSP00000252945.3:p.Leu460= | |
| ENST00000368520.1:n.1358+968T>C | ||
| ENST00000463117.6:c.1378T>C | ENSP00000440689.1:p.Leu460= | |
| ENST00000469258.1:n.474T>C | ||
| NM_000773.3:c.1378T>C | NP_000764.1:p.Leu460= | |
| NM_000773.4:c.1378T>C MANE Select | NP_000764.1:p.Leu460= |