Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659304G>A , CM000685.2:g.136659304G>A | GRCh38 |
| NC_000023.10:g.135741463G>A , CM000685.1:g.135741463G>A | GRCh37 |
| NC_000023.9:g.135569129G>A | NCBI36 |
| NG_007280.1:g.16128G>A , LRG_141:g.16128G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*293G>A | ENSP00000512122.1:n.*293G>A | |
| ENST00000695725.1:c.*230G>A | ENSP00000512123.1:n.*230G>A | |
| ENST00000695726.1:n.2643G>A | ||
| ENST00000695729.1:n.3478G>A | ||
| ENST00000370629.7:c.675G>A MANE Select | ENSP00000359663.2:p.Leu225= | |
| ENST00000370628.2:c.612G>A | ENSP00000359662.2:p.Leu204= | |
| ENST00000370629.6:c.675G>A | ENSP00000359663.2:p.Leu225= | |
| NM_000074.2:c.675G>A , LRG_141t1:c.675G>A | NP_000065.1:p.Leu225= | |
| NM_000074.3:c.675G>A MANE Select | NP_000065.1:p.Leu225= |