Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226780A>G , CM000673.2:g.5226780A>G | GRCh38 |
| NC_000011.9:g.5248010A>G , CM000673.1:g.5248010A>G | GRCh37 |
| NC_000011.8:g.5204586A>G | NCBI36 |
| NG_000007.3:g.70836T>C | |
| NG_059281.1:g.5292T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.112T>C MANE Select | NP_000509.1:p.Trp38Arg |
| ENST00000335295.4:c.112T>C MANE Select | ENSP00000333994.3:p.Trp38Arg |
| NM_000518.4:c.112T>C | NP_000509.1:p.Trp38Arg |
| ENST00000380315.2:c.112T>C | ENSP00000369671.2:p.Trp38Arg |
| ENST00000475226.1:n.44T>C | |
| ENST00000485743.1:n.163T>C | |
| ENST00000633227.1:c.96T>C | ENSP00000488004.1:p.Leu32= |
| ENST00000647020.1:c.112T>C | ENSP00000494175.1:p.Trp38Arg |