Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177371T>A , CM000678.2:g.177371T>A | GRCh38 |
| NC_000016.9:g.227370T>A , CM000678.1:g.227370T>A | GRCh37 |
| NC_000016.8:g.167370T>A | NCBI36 |
| NG_000006.1:g.38234T>A | |
| NG_059186.1:g.5721T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.389T>A MANE Select | ENSP00000322421.5:p.Leu130Gln | |
| ENST00000397797.1:c.293T>A | ENSP00000380899.1:p.Leu98Gln | |
| ENST00000472694.1:n.525T>A | ||
| NM_000558.4:c.389T>A | NP_000549.1:p.Leu130Gln | |
| NM_000558.5:c.389T>A MANE Select | NP_000549.1:p.Leu130Gln |