Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225602T>A , CM000673.2:g.5225602T>A | GRCh38 |
| NC_000011.9:g.5246832T>A , CM000673.1:g.5246832T>A | GRCh37 |
| NC_000011.8:g.5203408T>A | NCBI36 |
| NG_000007.3:g.72014A>T | |
| NG_059281.1:g.6470A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.440A>T MANE Select | NP_000509.1:p.His147Leu |
| ENST00000335295.4:c.440A>T MANE Select | ENSP00000333994.3:p.His147Leu |
| NM_000518.4:c.440A>T | NP_000509.1:p.His147Leu |
| ENST00000633227.1:c.*256A>T | ENSP00000488004.1:n.*256A>T |
| ENST00000647020.1:c.440A>T | ENSP00000494175.1:p.His147Leu |