Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3084562A>T , CM000682.2:g.3084562A>T | GRCh38 |
| NC_000020.10:g.3065208A>T , CM000682.1:g.3065208A>T | GRCh37 |
| NC_000020.9:g.3013208A>T | NCBI36 |
| NG_008663.1:g.5163T>A , LRG_715:g.5163T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.113T>A MANE Select | ENSP00000369647.3:p.Leu38Gln | |
| NM_000490.4:c.113T>A , LRG_715t1:c.113T>A | NP_000481.2:p.Leu38Gln | |
| XM_011529267.1:c.113T>A | XP_011527569.1:p.Leu38Gln | |
| XM_011529267.2:c.113T>A | XP_011527569.1:p.Leu38Gln | |
| NM_000490.5:c.113T>A MANE Select | NP_000481.2:p.Leu38Gln |