Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50905520T>A , CM000676.2:g.50905520T>A | GRCh38 |
| NC_000014.8:g.51372238T>A , CM000676.1:g.51372238T>A | GRCh37 |
| NC_000014.7:g.50441988T>A | NCBI36 |
| NG_012796.1:g.44011A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.2416A>T MANE Select | ENSP00000216392.7:p.Ile806Leu | |
| ENST00000216392.7:c.2416A>T | ENSP00000216392.7:p.Ile806Leu | |
| ENST00000532462.5:c.2379+2751A>T | ENSP00000431657.1:n.2379+2751A>T | |
| ENST00000544180.6:c.2314A>T | ENSP00000443787.1:p.Ile772Leu | |
| NM_001163940.1:c.2314A>T | NP_001157412.1:p.Ile772Leu | |
| NM_002863.4:c.2416A>T | NP_002854.3:p.Ile806Leu | |
| NM_002863.5:c.2416A>T MANE Select | NP_002854.3:p.Ile806Leu | |
| NM_001163940.2:c.2314A>T | NP_001157412.1:p.Ile772Leu |