Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94008767A>T , CM000663.2:g.94008767A>T | GRCh38 |
| NC_000001.10:g.94474323A>T , CM000663.1:g.94474323A>T | GRCh37 |
| NC_000001.9:g.94246911A>T | NCBI36 |
| NG_009073.1:g.117383T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5819T>A MANE Select | ENSP00000359245.3:p.Leu1940Gln | |
| ENST00000370225.3:c.5819T>A | ENSP00000359245.3:p.Leu1940Gln | |
| ENST00000465352.1:n.235T>A | ||
| ENST00000536513.5:c.2195T>A | ENSP00000439707.2:p.Leu732Gln | |
| NM_000350.2:c.5819T>A | NP_000341.2:p.Leu1940Gln | |
| NM_000350.3:c.5819T>A MANE Select | NP_000341.2:p.Leu1940Gln |