Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154174A>C , CM000681.2:g.55154174A>C | GRCh38 |
| NC_000019.9:g.55665542A>C , CM000681.1:g.55665542A>C | GRCh37 |
| NC_000019.8:g.60357354A>C | NCBI36 |
| NG_007866.2:g.8559T>G , LRG_432:g.8559T>G | |
| NG_011829.2:g.65T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.405T>G MANE Select | ENSP00000341838.5:p.Leu135= | |
| ENST00000665070.1:c.438T>G | ENSP00000499482.1:p.Leu146= | |
| ENST00000344887.9:c.405T>G | ENSP00000341838.5:p.Leu135= | |
| ENST00000585806.5:n.404T>G | ||
| ENST00000586669.5:n.413T>G | ||
| ENST00000588882.1:c.330T>G | ENSP00000466729.1:p.Leu110= | |
| ENST00000589864.1:n.233T>G | ||
| NM_000363.4:c.405T>G , LRG_432t1:c.405T>G | NP_000354.4:p.Leu135= | |
| NM_000363.5:c.405T>G MANE Select | NP_000354.4:p.Leu135= |