Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134500031A>T , CM000685.2:g.134500031A>T | GRCh38 |
| NC_000023.10:g.133634061A>T , CM000685.1:g.133634061A>T | GRCh37 |
| NC_000023.9:g.133461727A>T | NCBI36 |
| NG_012329.1:g.44887A>T | |
| NG_012329.2:g.44887A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000194.3:c.611A>T MANE Select | NP_000185.1:p.His204Leu |
| ENST00000298556.8:c.611A>T MANE Select | ENSP00000298556.7:p.His204Leu |
| NM_000194.2:c.611A>T | NP_000185.1:p.His204Leu |
| ENST00000298556.7:c.611A>T | ENSP00000298556.7:p.His204Leu |
| ENST00000475720.1:n.567+1347A>T | |
| XM_011531328.1:c.629A>T | XP_011529630.1:p.His210Leu |