Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39243550T>A , CM000681.2:g.39243550T>A | GRCh38 |
| NC_000019.9:g.39734190T>A , CM000681.1:g.39734190T>A | GRCh37 |
| NC_000019.8:g.44426030T>A | NCBI36 |
| NG_042193.1:g.6422A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613087.5:c.*82A>T | ENSP00000481633.1:n.*82A>T | |
| NM_001346937.2:c.*82A>T | NP_001333866.1:n.*82A>T |