Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131861617A>T , CM000668.2:g.131861617A>T | GRCh38 |
| NC_000006.11:g.132182757A>T , CM000668.1:g.132182757A>T | GRCh37 |
| NC_000006.10:g.132224450A>T | NCBI36 |
| NG_008206.1:g.58602A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.938A>T MANE Select | ENSP00000498074.1:p.Gln313Leu | |
| ENST00000650147.1:c.555A>T | ||
| ENST00000650437.1:c.429A>T | ||
| ENST00000360971.6:c.938A>T | ENSP00000354238.2:p.Gln313Leu | |
| ENST00000459624.1:n.8A>T | ||
| ENST00000513998.5:c.938A>T | ENSP00000422424.1:p.Gln313Leu | |
| NM_006208.2:c.938A>T | NP_006199.2:p.Gln313Leu | |
| NM_006208.3:c.938A>T MANE Select | NP_006199.2:p.Gln313Leu |