Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3590176T>C , CM000678.2:g.3590176T>C | GRCh38 |
| NC_000016.9:g.3640177T>C , CM000678.1:g.3640177T>C | GRCh37 |
| NC_000016.8:g.3580178T>C | NCBI36 |
| NG_028123.1:g.26409A>G , LRG_503:g.26409A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032444.4:c.3462A>G MANE Select | NP_115820.2:p.Leu1154= |
| ENST00000294008.4:c.3462A>G MANE Select | ENSP00000294008.3:p.Leu1154= |
| NM_032444.2:c.3462A>G , LRG_503t1:c.3462A>G | NP_115820.2:p.Leu1154= |
| NM_032444.3:c.3462A>G | NP_115820.2:p.Leu1154= |
| ENST00000294008.3:c.3462A>G | ENSP00000294008.3:p.Leu1154= |
| XM_011522715.1:c.3462A>G | XP_011521017.1:p.Leu1154= |
| XM_011522715.3:c.3462A>G | XP_011521017.1:p.Leu1154= |
| XM_017023775.2:c.2640A>G | XP_016879264.1:p.Leu880= |
| XM_024450471.1:c.3462A>G | XP_024306239.1:p.Leu1154= |