Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.56249736T>C , CM000682.2:g.56249736T>C | GRCh38 |
| NC_000020.10:g.54824792T>C , CM000682.1:g.54824792T>C | GRCh37 |
| NC_000020.9:g.54258199T>C | NCBI36 |
| NG_012200.1:g.6005T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019888.3:c.893T>C MANE Select | NP_063941.3:p.Ile298Thr |
| ENST00000243911.2:c.893T>C MANE Select | ENSP00000243911.2:p.Ile298Thr |