Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226794A>T , CM000673.2:g.5226794A>T | GRCh38 |
| NC_000011.9:g.5248024A>T , CM000673.1:g.5248024A>T | GRCh37 |
| NC_000011.8:g.5204600A>T | NCBI36 |
| NG_000007.3:g.70822T>A | |
| NG_059281.1:g.5278T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.98T>A MANE Select | NP_000509.1:p.Leu33Gln |
| ENST00000335295.4:c.98T>A MANE Select | ENSP00000333994.3:p.Leu33Gln |
| NM_000518.4:c.98T>A | NP_000509.1:p.Leu33Gln |
| ENST00000380315.2:c.98T>A | ENSP00000369671.2:p.Leu33Gln |
| ENST00000475226.1:n.30T>A | |
| ENST00000485743.1:n.149T>A | |
| ENST00000633227.1:c.82T>A | ENSP00000488004.1:p.Trp28Arg |
| ENST00000647020.1:c.98T>A | ENSP00000494175.1:p.Leu33Gln |