Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978233T= , CM000667.2:g.149978233T= | GRCh38 |
| NC_000005.9:g.149357796T= , CM000667.1:g.149357796T= | GRCh37 |
| NC_000005.8:g.149337989T= | NCBI36 |
| NG_007147.2:g.19351T= , LRG_684:g.19351T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.813T= | ||
| ENST00000286298.5:c.581T= MANE Select | ENSP00000286298.4:p.Leu194= | |
| ENST00000286298.4:c.581T= | ENSP00000286298.4:p.Leu194= | |
| ENST00000503336.1:c.254T= | ENSP00000426053.1:p.Leu85= | |
| NM_000112.3:c.581T= , LRG_684t1:c.581T= | NP_000103.2:p.Leu194= | |
| XM_017009191.2:c.581T= | XP_016864680.1:p.Leu194= | |
| NM_000112.4:c.581T= MANE Select | NP_000103.2:p.Leu194= |