Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21807728G>A , CM000684.2:g.21807728G>A | GRCh38 |
| NC_000022.10:g.22162017G>A , CM000684.1:g.22162017G>A | GRCh37 |
| NC_000022.9:g.20492017G>A | NCBI36 |
| NG_023054.2:g.64953C>T , LRG_786:g.64953C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002745.5:c.238C>T MANE Select | NP_002736.3:p.His80Tyr |
| ENST00000215832.11:c.238C>T MANE Select | ENSP00000215832.7:p.His80Tyr |
| NM_002745.4:c.238C>T , LRG_786t1:c.238C>T | NP_002736.3:p.His80Tyr |
| NM_138957.3:c.238C>T , LRG_786t2:c.238C>T | NP_620407.1:p.His80Tyr |
| ENST00000215832.10:c.238C>T | ENSP00000215832.6:p.His80Tyr |
| ENST00000398822.7:c.238C>T | ENSP00000381803.3:p.His80Tyr |
| ENST00000544786.1:c.238C>T | ENSP00000440842.1:p.His80Tyr |