Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65077173G>C , CM000677.2:g.65077173G>C | GRCh38 |
| NC_000015.9:g.65369511G>C , CM000677.1:g.65369511G>C | GRCh37 |
| NC_000015.8:g.63156564G>C | NCBI36 |
| NG_021411.1:g.5358G>C , LRG_682:g.5358G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001101362.3:c.358G>C MANE Select | NP_001094832.1:p.Asp120His |
| ENST00000432196.5:c.358G>C MANE Select | ENSP00000388723.2:p.Asp120His |
| NM_001101362.2:c.358G>C , LRG_682t1:c.358G>C | NP_001094832.1:p.Asp120His |
| ENST00000432196.3:c.358G>C | ENSP00000388723.2:p.Asp120His |