Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89920475C>T , CM000678.2:g.89920475C>T | GRCh38 |
| NC_000016.9:g.89986883C>T , CM000678.1:g.89986883C>T | GRCh37 |
| NC_000016.8:g.88514384C>T | NCBI36 |
| NG_012026.1:g.7597C>T | |
| NG_027810.1:g.3467C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.*263C>T MANE Select | ENSP00000451605.1:n.*263C>T | |
| ENST00000639847.1:c.*263C>T | ENSP00000492011.1:n.*263C>T | |
| ENST00000555147.1:c.*263C>T | ENSP00000451605.1:n.*263C>T | |
| ENST00000555427.1:c.951-115C>T | ENSP00000451760.1:n.951-115C>T | |
| ENST00000556922.1:c.951-115C>T | ENSP00000451560.1:n.951-115C>T | |
| NM_002386.3:c.*263C>T | NP_002377.4:n.*263C>T | |
| NM_002386.4:c.*263C>T MANE Select | NP_002377.4:n.*263C>T |