Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778509G>T , CM000682.2:g.6778509G>T | GRCh38 |
| NC_000020.10:g.6759156G>T , CM000682.1:g.6759156G>T | GRCh37 |
| NC_000020.9:g.6707156G>T | NCBI36 |
| NG_023233.1:g.15412G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.611G>T MANE Select | ENSP00000368104.3:p.Trp204Leu | |
| ENST00000378827.4:c.611G>T | ENSP00000368104.3:p.Trp204Leu | |
| NM_001200.2:c.611G>T | NP_001191.1:p.Trp204Leu | |
| XM_011529323.1:c.143G>T | XP_011527625.1:p.Trp48Leu | |
| NM_001200.3:c.611G>T | NP_001191.1:p.Trp204Leu | |
| NM_001200.4:c.611G>T MANE Select | NP_001191.1:p.Trp204Leu |