Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18388659C>A , CM000681.2:g.18388659C>A | GRCh38 |
| NC_000019.9:g.18499469C>A , CM000681.1:g.18499469C>A | GRCh37 |
| NC_000019.8:g.18360469C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595973.3:c.651C>A | ENSP00000470531.3:p.Arg217= | |
| ENST00000597765.2:c.651C>A | ENSP00000469819.2:p.Arg217= | |
| ENST00000252809.3:c.651C>A MANE Select | ENSP00000252809.3:p.Arg217= | |
| NM_004864.2:c.651C>A | NP_004855.2:p.Arg217= | |
| NM_004864.3:c.651C>A | NP_004855.2:p.Arg217= | |
| XM_024451789.1:c.651C>A | XP_024307557.1:p.Arg217= | |
| NM_004864.4:c.651C>A MANE Select | NP_004855.2:p.Arg217= |