Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913299G= , CM000674.2:g.110913299G= | GRCh38 |
| NC_000012.11:g.111351103G= , CM000674.1:g.111351103G= | GRCh37 |
| NC_000012.10:g.109835486G= | NCBI36 |
| NG_007554.1:g.12279C= , LRG_393:g.12279C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.300C= MANE Select | ENSP00000228841.8:p.Leu100= | |
| ENST00000663220.1:c.243C= | ENSP00000499568.1:p.Leu81= | |
| ENST00000228841.12:c.300C= | ENSP00000228841.7:p.Leu100= | |
| ENST00000548438.1:c.258C= | ENSP00000447154.1:p.Leu86= | |
| ENST00000549029.1:n.131C= | ||
| NM_000432.3:c.300C= , LRG_393t1:c.300C= | NP_000423.2:p.Leu100= | |
| NM_000432.4:c.300C= MANE Select | NP_000423.2:p.Leu100= |