Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37715770A>T , CM000684.2:g.37715770A>T | GRCh38 |
| NC_000022.10:g.38111777A>T , CM000684.1:g.38111777A>T | GRCh37 |
| NC_000022.9:g.36441723A>T | NCBI36 |
| NG_012857.1:g.23783A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.464A>T MANE Select | ENSP00000496394.1:p.Asp155Val | |
| ENST00000344404.10:c.262A>T | ENSP00000340312.6:p.Thr88Ser | |
| ENST00000406386.7:c.464A>T | ENSP00000384312.3:p.Asp155Val | |
| ENST00000455236.4:c.1421A>T | ENSP00000477208.1:n.1421A>T | |
| ENST00000492485.5:n.398A>T | ||
| NM_001039141.2:c.464A>T | NP_001034230.1:p.Asp155Val | |
| NM_001039141.3:c.464A>T MANE Select | NP_001034230.1:p.Asp155Val |