Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659207T>G , CM000685.2:g.136659207T>G | GRCh38 |
| NC_000023.10:g.135741366T>G , CM000685.1:g.135741366T>G | GRCh37 |
| NC_000023.9:g.135569032T>G | NCBI36 |
| NG_007280.1:g.16031T>G , LRG_141:g.16031T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*196T>G | ENSP00000512122.1:n.*196T>G | |
| ENST00000695725.1:c.*133T>G | ENSP00000512123.1:n.*133T>G | |
| ENST00000695726.1:n.2546T>G | ||
| ENST00000695729.1:n.3381T>G | ||
| ENST00000370629.7:c.578T>G MANE Select | ENSP00000359663.2:p.Leu193Arg | |
| ENST00000370628.2:c.515T>G | ENSP00000359662.2:p.Leu172Arg | |
| ENST00000370629.6:c.578T>G | ENSP00000359663.2:p.Leu193Arg | |
| NM_000074.2:c.578T>G , LRG_141t1:c.578T>G | NP_000065.1:p.Leu193Arg | |
| NM_000074.3:c.578T>G MANE Select | NP_000065.1:p.Leu193Arg |