Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659225G>T , CM000685.2:g.136659225G>T | GRCh38 |
| NC_000023.10:g.135741384G>T , CM000685.1:g.135741384G>T | GRCh37 |
| NC_000023.9:g.135569050G>T | NCBI36 |
| NG_007280.1:g.16049G>T , LRG_141:g.16049G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*214G>T | ENSP00000512122.1:n.*214G>T | |
| ENST00000695725.1:c.*151G>T | ENSP00000512123.1:n.*151G>T | |
| ENST00000695726.1:n.2564G>T | ||
| ENST00000695729.1:n.3399G>T | ||
| ENST00000370629.7:c.596G>T MANE Select | ENSP00000359663.2:p.Gly199Val | |
| ENST00000370628.2:c.533G>T | ENSP00000359662.2:p.Gly178Val | |
| ENST00000370629.6:c.596G>T | ENSP00000359663.2:p.Gly199Val | |
| NM_000074.2:c.596G>T , LRG_141t1:c.596G>T | NP_000065.1:p.Gly199Val | |
| NM_000074.3:c.596G>T MANE Select | NP_000065.1:p.Gly199Val |