Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27368941T>C , CM000673.2:g.27368941T>C | GRCh38 |
| NC_000011.9:g.27390488T>C , CM000673.1:g.27390488T>C | GRCh37 |
| NC_000011.8:g.27347064T>C | NCBI36 |
| NG_051818.1:g.108835A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018490.5:c.1782A>G MANE Select | NP_060960.2:p.Leu594= |
| ENST00000379214.9:c.1782A>G MANE Select | ENSP00000368516.4:p.Leu594= |
| NM_001346432.1:c.1710A>G | NP_001333361.1:p.Leu570= |
| NM_001346432.2:c.1710A>G | NP_001333361.1:p.Leu570= |
| NM_018490.2:c.1782A>G | NP_060960.2:p.Leu594= |
| NM_018490.3:c.1782A>G | NP_060960.2:p.Leu594= |
| NM_018490.4:c.1782A>G | NP_060960.2:p.Leu594= |
| ENST00000379214.8:c.1782A>G | ENSP00000368516.4:p.Leu594= |
| ENST00000389858.4:c.1710A>G | ENSP00000374508.4:p.Leu570= |