Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659093T= , CM000685.2:g.136659093T= | GRCh38 |
| NC_000023.10:g.135741252T= , CM000685.1:g.135741252T= | GRCh37 |
| NC_000023.9:g.135568918T= | NCBI36 |
| NG_007280.1:g.15917T= , LRG_141:g.15917T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695724.1:c.*82T= | ENSP00000512122.1:n.*82T= | |
| ENST00000695725.1:c.*19T= | ENSP00000512123.1:n.*19T= | |
| ENST00000695726.1:n.2432T= | ||
| ENST00000695729.1:n.3267T= | ||
| ENST00000370629.7:c.464T= MANE Select | ENSP00000359663.2:p.Leu155= | |
| ENST00000370628.2:c.401T= | ENSP00000359662.2:p.Leu134= | |
| ENST00000370629.6:c.464T= | ENSP00000359663.2:p.Leu155= | |
| NM_000074.2:c.464T= , LRG_141t1:c.464T= | NP_000065.1:p.Leu155= | |
| NM_000074.3:c.464T= MANE Select | NP_000065.1:p.Leu155= |