Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659320T= , CM000685.2:g.136659320T= | GRCh38 |
| NC_000023.10:g.135741479T= , CM000685.1:g.135741479T= | GRCh37 |
| NC_000023.9:g.135569145T= | NCBI36 |
| NG_007280.1:g.16144T= , LRG_141:g.16144T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*309T= | ENSP00000512122.1:n.*309T= | |
| ENST00000695725.1:c.*246T= | ENSP00000512123.1:n.*246T= | |
| ENST00000695726.1:n.2659T= | ||
| ENST00000695729.1:n.3494T= | ||
| ENST00000370629.7:c.691T= MANE Select | ENSP00000359663.2:p.Leu231= | |
| ENST00000370628.2:c.628T= | ENSP00000359662.2:p.Leu210= | |
| ENST00000370629.6:c.691T= | ENSP00000359663.2:p.Leu231= | |
| NM_000074.2:c.691T= , LRG_141t1:c.691T= | NP_000065.1:p.Leu231= | |
| NM_000074.3:c.691T= MANE Select | NP_000065.1:p.Leu231= |