Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89920810T>C , CM000678.2:g.89920810T>C | GRCh38 |
| NC_000016.9:g.89987218T>C , CM000678.1:g.89987218T>C | GRCh37 |
| NC_000016.8:g.88514719T>C | NCBI36 |
| NG_012026.1:g.7932T>C | |
| NG_027810.1:g.3802T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.*598T>C MANE Select | ENSP00000451605.1:n.*598T>C | |
| ENST00000639847.1:c.*598T>C | ENSP00000492011.1:n.*598T>C | |
| ENST00000555147.1:c.*598T>C | ENSP00000451605.1:n.*598T>C | |
| ENST00000555427.1:c.*22T>C | ENSP00000451760.1:n.*22T>C | |
| ENST00000556922.1:c.1098+73T>C | ENSP00000451560.1:n.1098+73T>C | |
| NM_002386.3:c.*598T>C | NP_002377.4:n.*598T>C | |
| NM_002386.4:c.*598T>C MANE Select | NP_002377.4:n.*598T>C |