Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659196T= , CM000685.2:g.136659196T= | GRCh38 |
| NC_000023.10:g.135741355T= , CM000685.1:g.135741355T= | GRCh37 |
| NC_000023.9:g.135569021T= | NCBI36 |
| NG_007280.1:g.16020T= , LRG_141:g.16020T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*185T= | ENSP00000512122.1:n.*185T= | |
| ENST00000695725.1:c.*122T= | ENSP00000512123.1:n.*122T= | |
| ENST00000695726.1:n.2535T= | ||
| ENST00000695729.1:n.3370T= | ||
| ENST00000370629.7:c.567T= MANE Select | ENSP00000359663.2:p.Phe189= | |
| ENST00000370628.2:c.504T= | ENSP00000359662.2:p.Phe168= | |
| ENST00000370629.6:c.567T= | ENSP00000359663.2:p.Phe189= | |
| NM_000074.2:c.567T= , LRG_141t1:c.567T= | NP_000065.1:p.Phe189= | |
| NM_000074.3:c.567T= MANE Select | NP_000065.1:p.Phe189= |