Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41741054G>A , CM000683.2:g.41741054G>A | GRCh38 |
| NC_000021.8:g.43161214G>A , CM000683.1:g.43161214G>A | GRCh37 |
| NC_000021.7:g.42034283G>A | NCBI36 |
| NG_032113.1:g.31036C>T | |
| NG_032113.2:g.31036C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.2139C>T MANE Select | ENSP00000332454.3:p.His713= | |
| ENST00000332512.7:c.2139C>T | ENSP00000332454.3:p.His713= | |
| ENST00000352483.3:c.2283C>T | ENSP00000330161.2:p.His761= | |
| NM_020639.2:c.2139C>T | NP_065690.2:p.His713= | |
| NM_020639.3:c.2139C>T MANE Select | NP_065690.2:p.His713= |