Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52676326A>G , CM000674.2:g.52676326A>G | GRCh38 |
| NC_000012.11:g.53070110A>G , CM000674.1:g.53070110A>G | GRCh37 |
| NC_000012.10:g.51356377A>G | NCBI36 |
| NG_008364.1:g.9082T>C | |
| NG_008364.2:g.9082T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252244.3:c.1424T>C MANE Select | ENSP00000252244.3:p.Leu475Pro | |
| ENST00000548765.1:n.498T>C | ||
| NM_006121.3:c.1424T>C | NP_006112.3:p.Leu475Pro | |
| NM_006121.4:c.1424T>C MANE Select | NP_006112.3:p.Leu475Pro |