Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1185387A>T , CM000673.2:g.1185387A>T | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001304359.2:c.7242A>T MANE Select | NP_001291288.1:p.Ser2414= |
| ENST00000621226.2:c.7242A>T MANE Select | ENSP00000485659.1:p.Ser2414= |
| NM_001304359.1:c.7242A>T | NP_001291288.1:p.Ser2414= |