Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89920138G>C , CM000678.2:g.89920138G>C | GRCh38 |
| NC_000016.9:g.89986546G>C , CM000678.1:g.89986546G>C | GRCh37 |
| NC_000016.8:g.88514047G>C | NCBI36 |
| NG_012026.1:g.7260G>C | |
| NG_027810.1:g.3130G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002386.4:c.880G>C MANE Select | NP_002377.4:p.Asp294His |
| ENST00000555147.2:c.880G>C MANE Select | ENSP00000451605.1:p.Asp294His |
| NM_002386.3:c.880G>C | NP_002377.4:p.Asp294His |
| ENST00000555147.1:c.880G>C | ENSP00000451605.1:p.Asp294His |
| ENST00000555427.1:c.880G>C | ENSP00000451760.1:p.Asp294His |
| ENST00000556922.1:c.880G>C | ENSP00000451560.1:p.Asp294His |
| ENST00000639847.1:c.880G>C | ENSP00000492011.1:p.Asp294His |