Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787619T>A , CM000681.2:g.18787619T>A | GRCh38 |
| NC_000019.9:g.18898428T>A , CM000681.1:g.18898428T>A | GRCh37 |
| NC_000019.8:g.18759428T>A | NCBI36 |
| NG_007070.1:g.8687A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1007A>T MANE Select | ENSP00000222271.2:p.Gln336Leu | |
| ENST00000222271.6:c.1007A>T | ENSP00000222271.2:p.Gln336Leu | |
| ENST00000425807.1:c.848A>T | ENSP00000403792.1:p.Gln283Leu | |
| ENST00000542601.6:c.908A>T | ENSP00000439156.2:p.Gln303Leu | |
| NM_000095.2:c.1007A>T | NP_000086.2:p.Gln336Leu | |
| NM_000095.3:c.1007A>T MANE Select | NP_000086.2:p.Gln336Leu |