Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6595027C>T , CM000671.2:g.6595027C>T | GRCh38 |
| NC_000009.11:g.6595027C>T , CM000671.1:g.6595027C>T | GRCh37 |
| NC_000009.10:g.6585027C>T | NCBI36 |
| NG_016397.1:g.55666G>A , LRG_643:g.55666G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1248G>A MANE Select | ENSP00000370737.4:p.Leu416= | |
| ENST00000639364.1:n.948G>A | ||
| ENST00000639443.1:n.816G>A | ||
| ENST00000639493.1:n.400G>A | ||
| ENST00000639954.1:n.956G>A | ||
| ENST00000640592.1:n.1131G>A | ||
| ENST00000321612.6:c.1248G>A | ENSP00000370737.3:p.Leu416= | |
| ENST00000463305.1:n.332G>A | ||
| NM_000170.2:c.1248G>A , LRG_643t1:c.1248G>A | NP_000161.2:p.Leu416= | |
| NM_000170.3:c.1248G>A MANE Select | NP_000161.2:p.Leu416= |