Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159886667T>A , CM000663.2:g.159886667T>A | GRCh38 |
| NC_000001.10:g.159856457T>A , CM000663.1:g.159856457T>A | GRCh37 |
| NC_000001.9:g.158123081T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368099.9:c.611A>T MANE Select | ENSP00000357079.4:p.His204Leu | |
| ENST00000368099.8:c.611A>T | ENSP00000357079.4:p.His204Leu | |
| ENST00000426543.6:c.356A>T | ENSP00000403044.2:p.His119Leu | |
| ENST00000476696.5:c.611A>T | ENSP00000483972.1:p.His204Leu | |
| ENST00000479940.2:c.356A>T | ENSP00000478944.1:p.His119Leu | |
| NM_012337.2:c.611A>T | NP_036469.2:p.His204Leu | |
| NM_012337.3:c.611A>T MANE Select | NP_036469.2:p.His204Leu |