Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086123C>A , CM000679.2:g.8086123C>A | GRCh38 |
| NC_000017.10:g.7989441C>A , CM000679.1:g.7989441C>A | GRCh37 |
| NC_000017.9:g.7930166C>A | NCBI36 |
| NG_007099.1:g.6581G>T | |
| NG_007099.2:g.6594G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.245G>T MANE Select | ENSP00000497784.1:p.Trp82Leu | |
| ENST00000319144.4:c.245G>T | ENSP00000315167.4:p.Trp82Leu | |
| NM_001139.2:c.245G>T | NP_001130.1:p.Trp82Leu | |
| NM_001139.3:c.245G>T MANE Select | NP_001130.1:p.Trp82Leu |