Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739428C>A , CM000674.2:g.120739428C>A | GRCh38 |
| NC_000012.11:g.121177231C>A , CM000674.1:g.121177231C>A | GRCh37 |
| NC_000012.10:g.119661614C>A | NCBI36 |
| NG_007991.1:g.18661C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.1219C>A MANE Select | ENSP00000242592.4:p.Leu407Ile | |
| ENST00000242592.8:c.1219C>A | ENSP00000242592.4:p.Leu407Ile | |
| ENST00000411593.2:c.1207C>A | ENSP00000401045.2:p.Leu403Ile | |
| NM_000017.3:c.1219C>A | NP_000008.1:p.Leu407Ile | |
| NM_001302554.1:c.1207C>A | NP_001289483.1:p.Leu403Ile | |
| NM_000017.4:c.1219C>A MANE Select | NP_000008.1:p.Leu407Ile | |
| NM_001302554.2:c.1207C>A | NP_001289483.1:p.Leu403Ile |