Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585204T>A , CM000673.2:g.67585204T>A | GRCh38 |
| NC_000011.9:g.67352675T>A , CM000673.1:g.67352675T>A | GRCh37 |
| NC_000011.8:g.67109251T>A | NCBI36 |
| NG_012075.1:g.6610T>A , LRG_723:g.6610T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.299T>A | ENSP00000381604.1:p.Leu100His | |
| ENST00000398606.10:c.299T>A MANE Select | ENSP00000381607.3:p.Leu100His | |
| ENST00000646888.1:c.*15T>A | ENSP00000494477.1:n.*15T>A | |
| ENST00000398603.5:c.299T>A | ENSP00000381604.1:p.Leu100His | |
| ENST00000398606.7:c.299T>A | ENSP00000381607.3:p.Leu100His | |
| ENST00000467591.1:n.410T>A | ||
| ENST00000494593.1:n.1094T>A | ||
| ENST00000498765.5:c.362T>A | ||
| NM_000852.3:c.299T>A , LRG_723t1:c.299T>A | NP_000843.1:p.Leu100His | |
| NM_000852.4:c.299T>A MANE Select | NP_000843.1:p.Leu100His |