Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586513T>A , CM000673.2:g.67586513T>A | GRCh38 |
| NC_000011.9:g.67353984T>A , CM000673.1:g.67353984T>A | GRCh37 |
| NC_000011.8:g.67110560T>A | NCBI36 |
| NG_012075.1:g.7919T>A , LRG_723:g.7919T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.461T>A | ENSP00000381604.1:p.Leu154His | |
| ENST00000398606.10:c.569T>A MANE Select | ENSP00000381607.3:p.Leu190His | |
| ENST00000398603.5:c.461T>A | ENSP00000381604.1:p.Leu154His | |
| ENST00000398606.7:c.569T>A | ENSP00000381607.3:p.Leu190His | |
| ENST00000467591.1:n.680T>A | ||
| ENST00000494593.1:n.1541T>A | ||
| ENST00000498765.5:c.632T>A | ||
| NM_000852.3:c.569T>A , LRG_723t1:c.569T>A | NP_000843.1:p.Leu190His | |
| NM_000852.4:c.569T>A MANE Select | NP_000843.1:p.Leu190His |