Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159886683G>T , CM000663.2:g.159886683G>T | GRCh38 |
| NC_000001.10:g.159856473G>T , CM000663.1:g.159856473G>T | GRCh37 |
| NC_000001.9:g.158123097G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368099.9:c.595C>A MANE Select | ENSP00000357079.4:p.Leu199Ile | |
| ENST00000368099.8:c.595C>A | ENSP00000357079.4:p.Leu199Ile | |
| ENST00000426543.6:c.340C>A | ENSP00000403044.2:p.Leu114Ile | |
| ENST00000476696.5:c.595C>A | ENSP00000483972.1:p.Leu199Ile | |
| ENST00000479940.2:c.340C>A | ENSP00000478944.1:p.Leu114Ile | |
| NM_012337.2:c.595C>A | NP_036469.2:p.Leu199Ile | |
| NM_012337.3:c.595C>A MANE Select | NP_036469.2:p.Leu199Ile |