Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96160290G>T , CM000670.2:g.96160290G>T | GRCh38 |
| NC_000008.10:g.97172518G>T , CM000670.1:g.97172518G>T | GRCh37 |
| NC_000008.9:g.97241694G>T | NCBI36 |
| NG_008981.1:g.5503C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.403C>A MANE Select | ENSP00000287020.4:p.Leu135Ile | |
| ENST00000287020.6:c.403C>A | ENSP00000287020.4:p.Leu135Ile | |
| ENST00000620978.1:c.403C>A | ENSP00000480170.1:p.Leu135Ile | |
| ENST00000621429.1:c.403C>A | ENSP00000483711.1:p.Leu135Ile | |
| NM_001001557.2:c.403C>A | NP_001001557.1:p.Leu135Ile | |
| NM_001001557.3:c.403C>A | NP_001001557.1:p.Leu135Ile | |
| NM_001001557.4:c.403C>A MANE Select | NP_001001557.1:p.Leu135Ile |